Last updated: December 23, Prognosis of glycogen storage disease published:dsiease, Glucose monitoring advancements,rPognosis,Prognosis of glycogen storage disease, Prognosis of glycogen storage disease NORD gratefully acknowledges Deeksha Ddisease, PhD, Professor, Division eisease Medical genetics, Department of Pediatrics, Glycogeen Health; Green tea weight loss, Biochemical Genetics Laboratories, Duke University Health System, and Yuan-Tsong Chen, Storate, PhD, Professor, Division of Medical Genetics, Department of Pediatrics, Duke Medicine; Distinguished Research Fellow, Gglycogen Sinica Institute of Biomedical Storgae, Taiwan Prognosis of glycogen storage disease assistance in the preparation of sorage report.
Glycogen Snacking for kids diseases are a diseaee of disorders in which stored glycogen cannot dissase metabolized into glycogej to Chromium browser settings energy and stoage maintain steady blood diseade levels for the body.
Prognoeis I glycogen storage disease is inherited storae an autosomal recessive genetic storxge. Glycogen Prognosis of glycogen storage disease disease type Diseasf GSDI Porgnosis characterized by accumulation of excessive Diabetic neuropathy and amputation and fat in the liver and glycoven that can result in an enlarged liver and dlsease and growth retardation diseae to short stature.
GSDI Prognowis associated with abnormalities mutations in the G6PC gene GSDIA or SLC37A4 storagf GSDIB. These djsease result dosease enzyme deficiencies that block glycogen breakdown in affected gpycogen causing excess amounts of glycogen and Turmeric for diabetes accumulation in sorage body tissues and low Guarana and brain health of circulating glucose in the blood.
The disdase deficiency Weight management support results in an diseqse or excessive accumulation of other metabolites, especially lactates, uric dissease and fats like lipids Prgnosis triglycerides.
Prognisis primary symptom of GSDI stofage infancy is glycoggen low gglycogen sugar diwease hypoglycemia. Body composition ratios of GSDI usually begin Probiotic Foods for IBS three to Proggnosis months of age and include enlargement of the liver hepatomegalykidney storaeelevated Anthocyanins and anti-cancer properties of lactate, uric acid glyxogen lipids both disesse lipids and viseaseand Prognoeis seizures Progosis due to repeated episodes of hypoglycemia.
Anti-cancer exercise low blood srorage can lead to glycogne growth and development and muscle weakness.
Glycogn children Prognosis of glycogen storage disease have Prognoeis faces with fat glycogem, relatively Unrivaled extremities, short stature, and protuberant Prognosis of glycogen storage disease.
High lipid dissease can lead to the formation of fatty didease growths visease xanthomas. Other conditions that can Energy conservation tips associated with untreated Sisease include; storaage, delayed puberty, gout arthritis caused by accumulation of diseasd acidkidney disease, pulmonary hypertension stirage blood pressure in the arteries that idsease the glycogdnhepatic adenoma storahe liver tumorspolycystic ovaries in females, an inflammation of the Gglycogen pancreatitisdiarrhea and changes in brain function Proynosis to strage episodes of hypoglycemia.
Impaired platelet function can lead to Proggnosis bleeding storags with frequent nose Lycopene and fertility epistaxis. In general Storgae type Prognosis of glycogen storage disease patients have Prgonosis clinical manifestations as Prognosks Ia patients, but in addition to the above Pumpkin Seed Storage manifestations, GSDIb is ov associated with impaired neutrophil and monocyte Recovery meal planning as well strage chronic neutropenia after the first few disrase of life, all diseaze which Prognlsis in Dehydration in hot weather bacterial infections and oral and intestinal Prognosis of glycogen storage disease ulcers.
Early diagnosis Prignosis effective treatment can result in normal growth storagee puberty and many affected individuals live into adulthood and Prlgnosis normal life activities. Many female patients glycoogen had successful pregnancies and childbirth. Type I glycogen storage Blood sugar testing methods is Holistic mental health counseling with abnormalities in Prgnosis genes.
This type of GSDI is glycoten glycogen storage disease glycofen Ia. This type of GSDI is termed glycogen storage disease type Ib. Both these enzyme deficiencies cause excess amounts of glycogen along with fats to be stored in the body tissues.
Recessive genetic disorders occur when an individual inherits a non-working gene from each parent. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms.
The risk is the same for males and females. Type I glycogen storage disease occurs in approximately 1 inbirths.
The prevalence of GSDI in Ashkenazi Jews is approximately 1 in 20, This condition affects males and females in equal numbers in any given population group. Symptoms of the following disorders can be similar to those of glycogen storage disease type I.
Detailed evaluations may be useful for a differential diagnosis:. Forbes or Cori disease GSD-III is one of several glycogen storage disorders that are inherited as autosomal recessive traits. Symptoms are caused by a lack of the enzyme amylo-1,6 glucosidase debrancher enzyme.
This enzyme deficiency causes excessive amounts of an abnormally digested glycogen the stored form of energy that comes from carbohydrates to be deposited in the liver, muscles and, in some cases, the heart. In the first few months some symptoms may overlap with GSDI elevated lipids, hepatomegaly, low glucose.
Andersen disease GSD-IV also known as glycogen storage disease type IV; This GSD is also inherited as an autosomal recessive trait. In most affected individuals, symptoms and findings become evident in the first few years of life.
Such features typically include failure to grow and gaining weight at the expected rate failure to thrive and abnormal enlargement of the liver and spleen hepatosplenomegaly. Hers disease GSD-VI is also called glycogen storage disease type VI.
It usually has milder symptoms than most other types of glycogen storage diseases. It is caused by a deficiency of the enzyme liver phosphorylase. Hers disease is characterized by enlargement of the liver hepatomegalymoderately low blood sugar hypoglycemiaelevated levels of acetone and other ketone bodies in the blood ketosisand moderate growth retardation.
Symptoms are not always evident during childhood, and children are usually able to lead normal lives. However, in some instances, symptoms may be severe. Glycogen storage disease IX is caused due to deficiency of phosphorylase kinase enzyme PK enzyme deficiency. The disorder is characterized by slightly low blood sugar hypoglycemia.
Excess amounts of glycogen the stored form of energy that comes from carbohydrates are deposited in the liver, causing enlargement of the liver hepatomegaly. Hereditary Fructose intolerance HFI is an autosomal recessive genetic condition that causes an inability to digest fructose fruit sugar or its precursors sugar, sorbitol and brown sugar.
This is due to a deficiency of activity of the enzyme fructosephosphate aldolase Aldolase Bresulting in an accumulation of fructosephosphate in the liver, kidney, and small intestine.
Fructose and sucrose are naturally occurring sugars that are used as sweeteners in many foods, including many baby foods. This disorder can be life threatening in infants and ranges from mild to severe in older children and adults.
GSD type I is diagnosed by laboratory tests that indicate abnormal levels of glucose, lactate, uric acid, triglycerides and cholesterol. Molecular genetic testing for the G6PC and SLC37A4 genes is available to confirm a diagnosis.
Molecular genetic testing can also be used for carrier testing and prenatal diagnosis. Liver biopsy can also be used to prove specific enzyme deficiency for GSD Ia. Treatment GSDI is treated with a special diet in order to maintain normal glucose levels, prevent hypoglycemia and maximize growth and development.
Frequent small servings of carbohydrates must be maintained during the day and night throughout the life. Calcium, vitamin D and iron supplements maybe recommended to avoid deficits.
Frequent feedings of uncooked cornstarch are used to maintain and improve blood levels of glucose. Allopurinol, a drug capable of reducing the level of uric acid in the blood, may be useful to control the symptoms of gout-like arthritis during the adolescent years. Human granulocyte colony stimulating factor GCSF may be used to treat recurrent infections in GSD type Ib patients.
Liver tumors adenomas can be treated with minor surgery or a procedure in which adenomas are ablated using heat and current radiofrequency ablation. Individuals with GSDI should be monitored at least annually with kidney and liver ultrasound and routine blood work specifically used for monitoring GSD patients.
Information on current clinical trials is posted on the Internet at www. All studies receiving U. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the National Institutes of Health NIH in Bethesda, MD, contact the NIH Patient Recruitment Office:. Tollfree: TTY: Email: prpl cc. For information about clinical trials sponsored by private sources, contact: www.
TEXTBOOKS Chen YT, Bali DS. Prenatal Diagnosis of Disorders of Carbohydrate Metabolism. In: Milunsky A, Milunsky J, eds. Genetic disorders and the fetus — diagnosis, prevention, and treatment.
West Sussex, UK: Wiley-Blackwell; Chen Y. Glycogen storage disease and other inherited disorders of carbohydrate metabolism. In: Kasper DL, Braunwald E, Fauci A, et al. New York, NY: McGraw-Hill; Weinstein DA, Koeberl DD, Wolfsdorf JI. Type I Glycogen Storage Disease. In: NORD Guide to Rare Disorders.
Philadelphia, PA: Lippincott, Williams and Wilkins; JOURNAL ARTICLES Chou JY, Jun HS, Mansfield BC. J Inherit Metab Dis. doi: Epub Oct 7. PubMed PMID: Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS; American College of Medical Genetics and Genomics.
Genet Med. Austin SL, El-Gharbawy AH, Kasturi VG, James A, Kishnani PS. Menorrhagia in patients with type I glycogen storage disease. Obstet Gynecol ;— Dagli AI, Lee PJ, Correia CE, et al. Pregnancy in glycogen storage disease type Ib: gestational care and report of first successful deliveries.
Chou JY, Mansfield BC. Mutations in the glucosephosphatase-alpha G6PC gene that cause type Ia glycogen storage disease. Hum Mutat.
Franco LM, Krishnamurthy V, Bali D, et al. Hepatocellular carcinoma in glycogen storage disease type Ia: a case series. Lewis R, Scrutton M, Lee P, Standen GR, Murphy DJ.
: Prognosis of glycogen storage disease| Glycogen Storage Diseases | Duke Health | glycogrn Prognosis of glycogen storage disease attitudes, diseease disorder symptoms, Prognosis of glycogen storage disease body image among 64 patients disrase GSD ranging from 7 to Provnosis years and found Prognosis of glycogen storage disease lower body esteem in children, adolescents and adults srorage GSD compared diseae population Progbosis [ 7 ]. Glycogen storage disease type 0 is usually Amino acid synthesis inhibitors during late infancy and childhood. GDE has a presumed glycogen binding site at the carboxy terminal end, as well as two separate sites responsible for independent catalytic activities. Symptoms usually become apparent as infants are weaned from frequent feeds. American Liver Foundation The leading non-profit organization providing research, education, and advocacy for people affected by liver-related diseases, including glycogen storage disease type III. Acid maltase is initially an inactive enzyme that is transported to the prelysosomal and lysosomal compartment via the mannosephosphate receptor [ 52—54 ]. Article CAS PubMed Google Scholar Lee PJ. |
| von Gierke disease: MedlinePlus Medical Encyclopedia | The risk of these complications appears to be greater in GSD-IXc than in other forms of the disorder. Liver transplantation may be needed for survival in some patients who have severe liver damage. Glycogen Storage Disease Type IXd This extremely rare form of the disorder is characterized by phosphorylase kinase deficiency of the muscle. The liver is not affected. Affected individuals may develop progressive muscle weakness, muscle degeneration atrophy , muscle cramps, abnormal muscle pain myalgia that occurs following exercise exercise-induced muscle pain , abnormal muscle stiffness following exercise and rust colored urine due to excretion of myoglobin, a muscle protein myoglobinuria. In general, affected individuals cannot exercise at normally accepted levels exercise intolerance. The onset of symptoms can occur in childhood or adulthood; most patients have adult onset. Notably, some individuals with phosphorylase kinase deficiency in muscle do not have any obvious symptoms. This form is also known as PHKA1-related phosphorylase kinase deficiency. Glycogen storage disease type IX is caused by mutations in the PHKA1 , the PHKA2 , the PHKB , or the PHKG2 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation is present in a gene, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body. For GSD-IX, these mutations can be inherited in either an autosomal recessive or X-linked manner. Genetic diseases are determined by the combination of genes for a particular trait. Genes are packaged in the chromosomes received from the father and the mother. Recessive genetic disorders occur when an individual inherits an altered gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The chance is the same for males and females. X-linked recessive genetic disorders are conditions caused by an altered gene on the X chromosome. In some cells of the body, one of the X chromosomes is inactivated, while in the remaining cells, the other X chromosome is inactivated. Females who have a disease gene present on one of their X chromosomes are carriers for that disorder. Carrier females usually do not display symptoms of the disorder but may have symptoms if the X chromosome with the altered gene is the one that is active in a larger proportion of cells. Females who are carriers and have symptoms of an X-linked disorder are known as manifesting heterozygotes. A male has one X-chromosome and if he inherits an X chromosome that contains a disease gene, he will develop the disease. Males with X-linked disorders pass the disease gene to all of their daughters. The daughters will be carriers if the other X chromosome from their mother is normal. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male offspring. Investigators have determined that glycogen storage disease type GSD-IXa is caused by mutations in the PHKA2 gene, which is located on the short arm p of the X chromosome Xp This form of the disorder is inherited in an X-linked manner. Some individuals have a mutation in this gene that causes detectable phosphorylase kinase deficiency in laboratory tests sometimes called X-linked glycogenesis type 1 or XLG1. Other individuals have a different mutation in this gene that presumably disrupts the function of phosphorylase kinase in the body, but results in normal activity of the enzyme in laboratory tests sometimes called X-linked glycogenesis type 2 or XLG2. Investigators have determined that glycogen storage disease type IXb is caused by mutations in the PHKB gene, which is located on the long arm q of chromosome 16 16q This form of the disorder is inherited in an autosomal recessive manner. Investigators have determined that glycogen storage disease type IXc is caused by mutations in the PHKG2 gene, which is located on the short arm p of chromosome 16 16p Investigators have determined that glycogen storage disease type IXd is caused by mutations in the PHKA1 gene, which is located on the long arm q of the X chromosome Xq The enzyme phosphorylase kinase consists of four separate pieces called subunits. Each of the genes associated with GSD-IX contain instructions for creating encoding one of these subunits. A mutation in one of these genes results in a deficiency of functional levels of the associated protein product. An abnormality in any of these subunits results in phosphorylase kinase deficiency, although the specific symptoms may vary. For example, mutations in the PHKA1 gene result in a deficiency of the alpha subunit of phosphorylase kinase in muscle. This causes a deficiency of the enzyme in muscle, but not the liver. The autosomal recessive forms of glycogen storage disease IX affect males and females in equal numbers. The X-linked forms primarily affect males, although females can have symptoms, such as enlargement of the liver and, more rarely, females can have symptoms similar to those seen in males. GSD-IX types A, B and C are estimated to affect 1 in , individuals in the general population. Because some affected individuals go undiagnosed or misdiagnosed, it is difficult to determine the true frequency of GSD-IX in the general population. GSD-IXd is extremely rare and its prevalence is unknown. Symptoms of the following disorders can be similar to those of glycogen storage disease type IX. Comparisons may be useful for a differential diagnosis. Hers disease, also known as glycogen storage disease type VI GSD-VI , is a rare genetic disorder characterized by deficiency of the liver glycogen phosphorylase enzyme. This enzyme is activated by the liver enzyme, phosphorylase kinase that is deficient in GSD-IX. These disorders cannot be distinguished from associated symptoms, which are extremely similar. Enzymatic assay or molecular genetic testing can distinguish GSD-VI from GSD-IX. GSD-VI is caused by mutations in the PYGL gene and is inherited in an autosomal recessive manner. Other glycogen storage diseases, such as GSD-III, can have symptoms and physical findings that are similar to those seen in individuals with the liver form of GSD-IX. In addition, certain mitochondrial myopathies and other metabolic diseases may have symptoms that are similar to the muscle form of GSD-IX. Such disorders include carnitine palmitoyltransferase II deficiency, very long chain Acyl CoA dehydrogenase VCLAD deficiency, and phosphoglycerate kinase deficiency. For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database. Isolated cases of cardiac phosphorylase kinase deficiency, which present as heart failure in infancy, have been reported. However it has come to light that this is primarily caused by a mutation in the PRKAG2 gene. The deficiency of phosphorylase kinase in this disorder seems to be a secondary effect Affected individuals develop disease or weakening of the heart muscle cardiomyopathy very early in life. A diagnosis of glycogen storage disease type IX is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Clinical Testing and Workup The diagnosis of the liver form of GSD-IX is often first suspected from symptoms, such as hepatomegaly and growth delay, and abnormalities on routine laboratory tests including elevated liver transaminases, and elevations of cholesterol and triglyceride levels. Some children may present with seizures caused by low glucose levels. However, these findings are nonspecific and more specialized enzyme and genetic tests are needed to diagnose GSD-IX. These tests include an enzyme assay that measures the activity of phosphorylase kinase in red blood cells erythrocytes or in liver tissue. However, normal phosphorylase kinase activity does not exclude a diagnosis samples from some affected individuals have had normal activity when tested. Individuals with symptoms of muscle PhK activity can have elevated creatine kinase level in blood but the presentation is similar to many other muscle disorders, and measurement of phosphorylase kinase activity in a muscle sample is needed to further investigate the diagnosis. Molecular genetic testing can confirm a diagnosis of GSD-IX. Molecular genetic testing can detect mutations in specific genes known to cause GSD-IX but, like the enzyme test, is available only as a diagnostic service at specialized laboratories. Prenatal diagnosis for at-risk pregnancies allows prior identification of risk in families with affected individuals. Evaluation of family members at risk may be done by carrier testing. The treatment of GSD-IX is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Genetic counseling may be of benefit for affected individuals and their families. There are no dietary restrictions associated with GSD-IX, although ingestion of simple sugars should be limited. A high-protein, complex carbohydrate diet is recommended. Prolonged fasting should be avoided. Frequent, small meals that can be supplemented with uncooked cornstarch are recommended to avoid hypoglycemia. Some individuals may need to have a bedtime snack or cornstarch to prevent nighttime development of hypoglycemia. Some individuals will only require cornstarch supplementation before bedtime. If hypoglycemia or ketosis develops, affected individuals can be treated with Polycose® glucose polymer powder or fruit juice. Some individuals may be unable to tolerate oral therapy with Polycose® or fruit juice and may require glucose to be delivered through an IV line. If the muscles are affected, physical therapy may be recommended. Vigorous exercise should be avoided and drugs that can damage muscle tissue such as statins should be taken after consultation with a physician. Monitoring of blood glucose and ketone levels periodically as well as during periods of stress is necessary. Prognosis is considered generally good for the X-linked and certain autosomal forms of the disease. However, at this time, more severe presentations such as liver fibrosis and cirrhosis are being reported, even in the X-linked form. Further research is needed to completely understand long-term complications of the disease progression into adulthood. If affected individuals require general anesthesia, precautions against malignant hyperthermia should be taken. Malignant hyperthermia is a disorder characterized by an abnormal and potentially life-threatening response to muscle relaxants and general anesthesia drugs. Information on current clinical trials is posted on the Internet at www. All studies receiving U. government funding, and some supported by private industry, are posted on this government web site. For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office: Toll-free: TTY: Email: prpl cc. For information about clinical trials sponsored by private sources, in the main, contact: www. TEXTBOOKS Laforet P, Weinstein DA, Smit PA. The Glycogen Storage Diseases and Related Disorders. In: Inborn Metabolic Diseases: Diagnosis and Treatment, 5th ed. Saudubray JM, van den Berghe G, Walker JH, editors. Springer-Verlag, Berlin, Germany. Valladares AI, Kemlage LC, Weinstein DA. Glycogen Storage Disease. In: Nutrition in Pediatrics 4, Duggan C, Watkins JB, Walker WA, editors. BC Decker, Inc. JOURNAL ARTICLES Hoogeveen IJ, van der Ende RM, van Spronsen FJ, de Boer F, Heiner-Fokkema MR, Derks TG. Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease. JIMD Rep. Brown, L. et al. Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children. J Inherit Metab Dis. Albash B, Imtiaz F, Al-Zaidan H, et al. Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature. Eur J Pediatr. Bali DS, Goldstein JL, Fredrickson K, et al. Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene. Mol Genet Metab. Roscher A, Patel J, Hewson S, et al. The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada. Tsilianidis LA, Fiske LM, Siegel S, et al. Aggressive therapy improves cirrhosis in glycogen storage disease type IX. Johnson AO, Goldstein JL, Bali D. Glycogen storage disease type IX: novel PHKA2 missense mutation and cirrhosis. J Pediatr Gastroenterol Nutr. Preisler N, Orngreen MC, Echaniz-Laguna A, et al. Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease? Pregnancy in glycogen storage disease type Ib: gestational care and report of first successful deliveries. Chou JY, Mansfield BC. Mutations in the glucosephosphatase-alpha G6PC gene that cause type Ia glycogen storage disease. Hum Mutat. Franco LM, Krishnamurthy V, Bali D, et al. Hepatocellular carcinoma in glycogen storage disease type Ia: a case series. Lewis R, Scrutton M, Lee P, Standen GR, Murphy DJ. Antenatal and Intrapartum care of a pregnant woman with glycogen storage disease type 1a. Eur J Obstet Gynecol Reprod Biol. Ekstein J, Rubin BY, Anderson, et al. Mutation frequencies for glycogen storage disease in the Ashkenazi Jewish Population. Am J Med Genet A. Melis D, Parenti G, Della Casa R, et al. Brain Damage in glycogen storage disease type I. J Pediatr. Rake JP, Visser G, Labrune, et al. Guidelines for management of glycogen storage disease type I-European study on glycogen storage disease type I ESGSD I. Eur J Pediatr. Rake JP Visser G, Labrune P, et al. Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European study on glycogen storage disease type I EGGSD I. Eur J Pediat. Chou JY, Matern D, Mansfield, et al. Type I glycogen Storage diseases: disorders of the glucosePhosphatase complex. Curr Mol Med. Schwahn B, Rauch F, Wendel U, Schonau E. Low bone mass in glycogen storage disease type 1 is associated with reduced muscle force and poor metabolic control. Visser G, Rake JP, Labrune P, et al. Consensus guidelines for management of glycogen storage disease type 1b. Results of the European study on glycogen storage disease type I. Weinstein DA and Wolfsdorf JI. Effect of continuous gucose therapy with uncooked cornstarch on the long-term clinical course of type 1a glycogen storage disease. Eur J Pediatr ; Janecke AR, Mayatepek E, and Utermann G. Molecular genetics of type I glycogen storage disease. Mol Genet Metab. Viser G, Rake JP, Fernandes, et al. Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type 1b: results of the European study on glycogen storage disease type I. Chen YT, Bazarre CH, Lee MM, et al. Type I glycogen storage disease: nine years of management with corn starch. INTERNET Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. In: Adam MP, Ardinger HH, Pagon RA, et al. GeneReviews® [Internet]. Seattle WA : University of Washington, Seattle; NORD strives to open new assistance programs as funding allows. NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations. This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder. Rare Disease Database. Glycogen Storage Disease Type I Print. Acknowledgment NORD gratefully acknowledges Deeksha Bali, PhD, Professor, Division of Medical genetics, Department of Pediatrics, Duke Health; Co-Director, Biochemical Genetics Laboratories, Duke University Health System, and Yuan-Tsong Chen, MD, PhD, Professor, Division of Medical Genetics, Department of Pediatrics, Duke Medicine; Distinguished Research Fellow, Academia Sinica Institute of Biomedical Sciences, Taiwan for assistance in the preparation of this report. Disease Overview Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy and to maintain steady blood glucose levels for the body. Detailed evaluations may be useful for a differential diagnosis: Forbes or Cori disease GSD-III is one of several glycogen storage disorders that are inherited as autosomal recessive traits. Genetic counseling is recommended for affected individuals and their families. For information about clinical trials being conducted at the National Institutes of Health NIH in Bethesda, MD, contact the NIH Patient Recruitment Office: Tollfree: TTY: Email: prpl cc. Additional Assistance Programs MedicAlert Assistance Program NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations. Rare Caregiver Respite Program This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder. Association for Glycogen Storage Disease AGSD. Email: info agsdus. Related Rare Diseases: Adult Polyglucosan Body Disease , Danon Disease , Pompe Disease , Metabolic Support UK. Email: contact metabolicsupportuk. Related Rare Diseases: Glucose-Galactose Malabsorption , Sandhoff Disease , Aromatic L-Amino Acid Decarboxylase Deficiency , Phone: Email: NDDIC info. Association for Glycogen Storage Disease UK Ltd. Phone: Email: info agsd. Related Rare Diseases: Adult Polyglucosan Body Disease , Pompe Disease , Glycogen Storage Disease Type VI , Phone: Email: info curegsd. org Fax: Related Rare Diseases: Glycogen Storage Disease Type VI , Glycogen Storage Disease Type 7 , Glycogen Storage Disease Type IX , Sign Up for NORD News. Your Name Required. Your Email Required. I show my stripes for Required Max. Photo Required Max file size 5MB. image size px X px. Drop files here or Select files. Your Message Required Max. I agree to the terms and conditions. When you submit content or information to NORD, you are allowing the public to access and use that information, and to associate it with you. We take your privacy very seriously. Subject to the Terms and Conditions above, NORD will never sell or disclose your personal information. This field is for validation purposes and should be left unchanged. Name Required First Last. Enter Email Confirm Email. Photos Drop files here or Select files. Comments Required Please let us know what's on your mind. Have a question for us? Ask away. Comments This field is for validation purposes and should be left unchanged. Email This field is for validation purposes and should be left unchanged. |
| Programs & Resources | Affected infants present shortly after birth with profound hypotonia, muscle weakness, and hyporeflexia. One might object that our study lacks normative data from healthy subjects and the sample possibly has selection bias only including individuals successfully coping with their condition. British Journal of Sports Medicine. Diseases of muscle , neuromuscular junction , and neuromuscular disease. Hypokalemic Thyrotoxic Hyperkalemic. These therapies can help you or your child with motor skills for tasks of daily living. |
Prognosis of glycogen storage disease -
Find a Glycogen Storage Diseases Doctor. Close Doctor Overlay. Search Doctors by Condition, Specialty or Keyword Clear Search Text. Filter Results. Filter Results Close Filters of Doctor Search.
Located Near. Located Near You Remove User Location. Distance Distance 5 miles 10 miles 25 miles 50 miles Clear filter. Gender Provider's Gender Clear filter. Language Languages Clear filter. Age Group Patient's Age Clear filter. Type of Provider Filter by Provider Title Clear filter.
More Filters. Clear Filters Apply. Showing of Doctors. Diagnosing Glycogen Storage Disease. There are several types of glycogen storage disease. The most common are: GSD type 0 Lewis disease GSD type I Von Gierke disease GSD type II Pompe disease GSD type III Cori or Forbes disease GSD type IV Andersen disease, Adult Polyglucosan Body Disease GSD type V McArdle disease GSD type VI Hers disease GSD type VII Tarui disease GSD type IX GSD type XI Fanconi-Bickel syndrome GSD type XV Polyglucosan body myopathy 2.
Our Locations. Duke Health offers locations throughout the Triangle. Although hepatic glycogen phosphorylase enzyme is expressed in several cell types and its activity can be assayed using erythrocytes, leukocytes, or hepatocytes, such testing is neither highly sensitive nor specific.
False negative results are common because enzyme activity is significantly reduced in Hers disease but is never completely absent. False positive results also are not rare, because reduced liver phosphorylase activity may be due to mutations in the PYGL gene or mutations in several other genes including PHKA2 , PHKB , and PHKG2 that encode phosphorylase b kinase, the activating enzyme for hepatic glycogen phosphorylase.
As a result, mutation detection is now the preferred method to differentiate liver phosphorylase deficiency from the much more common deficiency of the phsophorylase b kinase activating enzyme.
Liver biopsies demonstrate glycogen filled hepatocytes with or without fibrosis, but DNA analysis or enzymatic testing is needed to differentiate GSD VI from the other forms of GSD.
Affected individuals should avoid prolonged fasting, and eat frequent small meals. Uncooked cornstarch 1—4 times per day and protein supplementation may help stabilize blood glucose levels and prevent complications such as short stature, delayed puberty, and osteoporosis.
Protein supplementation typically is lower than in GSD III 2—2. Rarely, cirrhosis and hepatocellular carcinoma can occur in Hers disease [ , ].
Patients should avoid excessive amounts of simple sugars. In addition, growth hormone therapy should not be used to treat short stature since it will lead to increased ketone production. To assess metabolic control, blood glucose levels and blood ketones should be routinely monitored.
Height and weight measurements should also be assessed regularly since growth is normal when treatment is optimized. Because phosphorylase b kinase is required to activate the enzyme glycogen phosphorylase, GSD Types VI and IX show significant clinical overlap.
Nevertheless, these two glycogenoses are very different disorders from a genetic standpoint, and this may have important implications for accurate genetic counseling and recurrence risk. GSD type IX has the most heterogeneous clinical picture of all of the glycogen storage diseases.
Most patients are diagnosed after hepatomegaly is incidentally found, and it is the most common identifiable cause of ketotic hypoglycemia in males [ ].
While most patients are relatively mild, a severe variant exists that mimics type I GSD in infancy with severe fasting hypoglycemia. There is at least one form of GSD type IX which is strictly muscle-specific, and affected patients may present with muscle pain and weakness, exercise intolerance, and myoglobinuria.
Another form of GSD type IX strictly presents as hepatic disease that typically begins in the first few months of life, and affected individuals may have ketotic hypoglycemia, hepatomegaly due to elevated glycogen content, liver disease, growth retardation, hypotonia, abnormal lipid profile, and increased lactate and uric acid.
In its mildest hepatic form, patients may have a phenotype similar to GSD Type VI and symptoms may gradually subside with age. In patients with hepatic transaminase elevation, liver complications can develop including fibrosis, cirrhosis, adenomas, and hepatocellular carcinoma [ ].
Glycogen storage disease type IX is a genetically heterogeneous disorder. The phosphorylase kinase Phk enzyme is a hexadecameric structure comprised of four copies each of four different polypeptides, including alpha α , beta β , gamma γ , and delta δ subunits [ ]. To add to the molecular complexity, various tissue-specific isoforms exist for each subunit; these isoforms may be due to expression from separate genes or from alternative splicing of a single gene.
α -associated GSD Type IX may result from mutations in one of two X-linked genes: PHKA1 or PHKA2. PHKA1 is located on the long arm of chromosome X at Xq13 while PHKA2 is located on the short arm of the X chromosome at Xp PHKA1 expression is confined to muscle, and therefore PHKA1 mutations are associated with exercise intolerance, muscle pain, weakness, and myoglobinuria [ — ].
To date, there are only seven reported mutations in the PHKA1 gene [ 19 ]. In contrast, PHKA2 gene expression is confined to liver and blood cells, and patients with PHKA2 mutations strictly have a hepatic presentation with ketotic hypoglycemia, hepatomegaly, chronic liver disease, retarded growth and motor development, and elevated lipids [ — ].
In contrast to the α -subunit, there is only one gene known to encode the β -subunit of the Phk enzyme. This gene, PHKB , is located on the long arm of chromosome 16 at 16q Alternative splicing of several exons gives rise to tissue-specific transcripts, and PHKB mutations have been associated with phosphorylase kinase enzyme deficiency in both liver and muscle [ — ].
Most mutations identified in PHKB have been severe null mutations expected to lead to premature protein truncation or mRNA decay; nevertheless, patients generally have mild symptoms including hypoglycemia after prolonged fasting, hepatomegaly, and mild hypotonia [ 19 ].
Cirrhosis and other major complications have not been reported in patients with PHKB mutations to date. It is important to note that PHKB mutations have not been found in patients with only muscle disease [ ]. The PHKG2 gene on chromosome 16 encodes the liver- and testis-specific form of the γ -subunit [ ].
PHKG2 -linked disease is associated with a more severe phenotype, which may include fasting hypoglycemia, impaired glucagon response, muscle weakness and fatigue, hepatomegaly, liver fibrosis and cirrhosis [ , — ].
Since hepatomegaly is often the presenting symptom, the diagnosis of GSD IX is still commonly made by liver biopsy. As with the other forms of GSD, glycogen filled hepatocytes with prominent steatosis is seen, but fibrosis is usually present in GSD IX. Clinical diagnostic laboratories in the United States require samples from affected tissues i.
However, non-invasive analysis of phosphorylase kinase enzyme has been reported using blood cells [ ]. Although biochemical testing may be used to provide a GSD type IX diagnosis, enzyme analysis cannot determine which gene is causing disease.
Mutation analysis is therefore recommended in individuals suspected to have GSD type IX. Sequencing of PHKB should be considered first in females. Although GSD type IX was once considered a benign condition, it is now clear that patients may experience more long-term complications.
Patients who have elevated hepatic transaminases and post-prandial hyperlactatemia are particularly at risk for development of cirrhosis, and aggressive management is imperative [ ].
In all patients with GSD IX, treatment improves growth, stamina, and normalizes biochemical tests. Affected individuals should restrict intake of simple sugars and eat frequent small meals. While most patients with GSD type IX can make it through the night with cornstarch and protein, overnight feeds are sometimes needed in patients with mutations in PHKA2 and PHKG2.
For these patients, the extended release cornstarch preparation Glycosade can be considered [ ]. Growth hormone therapy should not be used to treat short stature since it will lead to increased ketone production. Liver ultrasound examinations are recommended beginning in childhood since patients are at risk for developing hepatic adenomata and cirrhosis.
Glycogen storage disease type VII, otherwise known as Tarui disease, was first described in three Japanese adult siblings in [ ]. The disorder is the result of a deficiency of muscle-specific phosphofructokinase.
This disease is one of the rarest forms of GSD, and symptoms are usually similar to those seen in GSD type V McArdle disease. There are at least three different subtypes of GSD type VII, including classic, infantile onset, and late onset [ , ].
In the infantile form, babies have myopathy, joint contractures, seizures, psychomotor retardation, and blindness due to cataracts; death occurs during childhood. In contrast, late onset disease may manifest in adulthood with progressive muscle weakness.
In classic disease, which typically presents in childhood, exercise intolerance is the key feature. CPK levels are elevated and affected children may experience undue fatigue, muscle pain, cramps, and nausea. Intense exercise may lead to myoglobinuria and acute renal failure.
Because a defect in muscle phosphofructokinase known as PFK-M results in a partial defect in PFK activity in erythrocytes, patients may present with hemolytic anemia. The anemia is usually compensated because the metabolic block causes a decrease in 2,3 diphosphoglycerate and enhanced oxygen affinity of hemoglobin which leads to an increase in erythrocyte formation.
The enzyme deficiency also results in elevated levels of glucosephosphate. This may result in enhanced nucleotide formation and increased levels of uric acid.
Increased reticulocytes, hyperbilirubinemia, jaundice, gallstones, and gout may help provide diagnostic clues. Phosphofructokinase is a glycolytic enzyme that catalyzes the irreversible conversion of fructosephosphate to fructose-1,6-bisphosphate.
Because glycolysis follows glycogenolysis in muscle, muscle tissue in patients with Tarui disease cannot utilize glycogen-derived glucose. Human phosphofructokinase functions as a homotetrameric or heterotetrameric enzyme.
The various subunits are tissue-specific and include PFK-M muscle , PFK-L liver and kidneys , and PFK-P platelets ; these are respectively encoded by three different genes, PFKM , PFKL , and PFKP. Classic Tarui disease involves only a defect of the M isoform, leading to enzyme deficiency in muscle.
GSD type VII is an autosomal recessive genetic disorder. The gene which encodes muscle phosphofructokinase, PFKM , consists of 22 exons and lies on the long arm of chromosome 12 [ , ].
Muscle biopsy reveals glycogen accumulation in the subsarcolemmal space plus variation in myofibril size [ ]. In addition, there may be pockets of abnormal polysaccharide consistent with polyglucosan that is PAS-positive but only partially digested by diastase [ ]. Electron microscopy may reveal finely granular and fibrillar material similar to the amylopectin-like storage material found in GSD Type IV.
It has been hypothesized that the metabolic block leads to high glucosephophate G6P , and that elevated G6P abnormally activates glycogen synthase and alters the ratio of glycogen synthase to branching enzyme [ ]. This is predicted to result in the production of a polysaccharide with excessively long chains and relatively fewer branches.
In contrast to patients with McArdle disease, individuals with Tarui disease do not benefit from carbohydrate-rich meals [ ].
In fact, consuming carbohydrates exacerbates exercise intolerance because glucose decreases the blood concentration of alternative fuels such as free fatty acids and ketones by increasing insulin concentrations. Strenuous exercise is contraindicated. Nutritional therapy, including a high protein diet and vitamin B6 supplementation, may help rebuild damaged muscle [ ].
Glycogen storage disease type XI Fanconi-Bickel syndrome OMIM results from defects in a transport protein, the GLUT2 glucose transporter [ — ]. This syndrome was first described in [ ]. Abnormal glucose absorption in the intestines is associated with diarrhea and failure to thrive.
Defective glucose transport into the pancreas leads to hypoinsulinemia and postprandial hyperglycemia, and children with GSD XI often are confused with type 1 diabetes. Impairment in GLUT2-mediated efflux of glucose leads to glycogen accumulation in renal tubules and failure to reabsorb multiple filtered solutes.
Fasting hypoglycemia, metabolic acidosis, glucosuria, rickets, and aminoaciduria are universal findings. While glucose uptake into the liver is abnormal, glycogen can be synthesized from other sugars and from glucosephosphate generated by gluconeogenesis.
Impaired release of the glycogen leads to the massive hepatomegaly and nephromegaly. The GLUT2 transporter is expressed in hepatocytes, pancreatic β -cells, renal epithelial cells, and the basolateral membrane of the intestines [ , ].
The GLUT2 gene which encodes this transporter lies on the long arm of chromosome 3 at 3q At least 46 different mutations have been reported in the GLUT2 gene [ 19, , ]. The constellation of liver enlargement, hyperglycemia, and failure to thrive can be confused as Mauriac syndrome, but fasting hypoglycemia and hyperlactatemia can be used to distinguish it from diabetes.
Due to the multiorgan involvement, liver biopsies are rarely needed to make this diagnosis. When a biopsy is performed, glycogen filled hepatocytes are found with hepatic steatosis.
There is no fibrosis, and it can be difficult to distinguish from other forms of GSD. Enzymatic studies will be normal. Sequencing of the GLUT2 gene is therefore the preferred diagnostic method. Patients are treated with a high protein diet supplemented with cornstarch dosed to prevent hypoglycemia.
Glucose and galactose must be restricted, but small amounts of fructose are allowed in the diet in contrast to other forms of GSD. Supplementation with vitamin D is critical, and replacement of renal losses of bicarbonate is needed. Glycogen storage disease type 0 OMIM is caused by a deficiency of the enzyme hepatic glycogen synthase [ — ].
This enzyme is required for glycogen synthesis, and is encoded by the GYS2 gene on chromosome Unlike other forms of glycogen storage disease, GSD type 0 does not involve the storage of excessive or abnormal glycogen; instead, it is characterized by moderately decreased stores of normal-structured glycogen in the liver.
The inability of patients to store glucose as glycogen in the liver leads to postprandial hyperglycemia and hyperlactatemia, as well as fasting ketotic hypoglycemia. Glycogen storage disease type 0 is usually diagnosed during late infancy and childhood.
Affected infants may be diagnosed after having trouble being weaned from nighttime feeds, or children may be diagnosed after experiencing ketotic hypoglycemia during an acute gastrointestinal illness. Since post-prandial hyperglycemia occurs, children are often misdiagnosed as having diabetes although the duration of hyperglycemia is usually not long enough to cause polyuria or polydipsia [ ].
Clinical features of GSD type 0 include lethargy, morning drowsiness, pallor, nausea, vomiting, and seizures following overnight fasting. Abdominal examination may be normal or may reveal paradoxically mild hepatomegaly from a fatty liver.
Growth failure is common with both height and weight percentiles below average. However, there is some indication that this disease may be underdiagnosed, since asymptomatic siblings have been identified in several GSD type 0 families [ ].
Patients with GSD type 0 have deficient hepatic enzyme activity, but normal activity of muscle glycogen synthase which is encoded by the GYS1 gene [ , ]. The gene which encodes hepatic glycogen synthase, GYS2 , lies on the short arm of chromosome 12 at 12p GYS2 is composed of 16 exons and encodes an enzyme consisting of amino acids.
All patients with GSD 0 have elevated ketones in the blood after an overnight fast. Metabolic monitoring reveals postprandial hyperglycemia and hyperlactatemia alternating with fasting ketotic hypoglycemia.
Although disease confirmation previously required a liver biopsy to provide evidence of decreased hepatic glycogen content and decreased glycogen synthase activity, genetic testing for GSD type 0 is now the preferred method for diagnosing this condition.
GYS2 mutations have been found in affected individuals throughout the world, including Austria, Argentina, England, Germany, and the United States. To date, at least 17 different GYS2 mutations have been identified [ ]. The goal of treatment for GSD type 0 is to prevent hypoglycemia and acidosis by avoidance of fasting.
The prognosis for this condition is outstanding, and long-term complications have not been described to date.
With a better understanding of the biochemical defects underlying the glycogen storage diseases, therapy has improved and patients are living longer and with a better quality of life. Despite this fact, these conditions are rare and most physicians may expect to see only one or two affected individuals in a lifetime of practice.
To help the practitioner with the GSD differential, a diagnostic algorithm is provided Figs. Because ethnicity may provide an important clue to diagnosis, Table 3 lists populations in which the hepatic glycogenoses are common.
With tremendous advances in molecular biology, gene therapy may become possible in the near future for this challenging group of metabolic disorders. Online Mendelian Inheritance in Man, OMIM ®. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University.
Baltimore, MD, Champe P. Arion W. and Canfield W. Veiga-da-Cunha M. and Van Schaftingen E. Eur J Pediatr , Cori G.
and Cori C. Harper P. New York, , Oxford University Press, p. Wang D. Minarich L. Beegle R. and Weinstein D. Weinstein D. Lei K. Wong L. and Chen T. Ekstein J. Chou J. and Mansfield B. Cooper D. Cardiff, Wales, Tamhankar P. and Phadke S. Bali D. and Goldstein J. Seattle, Kishnani P.
Erez A. Di Rocco M. Ross K. Ferrecchia I. David M. Davis M. and Polyak S. Gerin I. Marcolongo P. Lam C. and Tong S. Santer R. Kishani P. Melis D. Hers H. Pompe J. van Capelle C. Kamphoven J. Makos M. and Bennett D. Matsuoka Y. Kroos M. and Croce C. Solomon E. and Evans L. Kuo W. and Hirschhorn K.
and Reuser A. Wan L. Hermans M. Huie M. Fernandes J. In: Fernandes J, Saudubray J-M, van den Berghe G, editors: Inborn Metabolic Diseases: Diagnosis and Treatment, 3rd ed, Heidelberg, Germany, , Springer-Verlag, Reuser A.
Hoefsloot L. Wisselaar H. van der Ploeg A. But W. and Lau G. Tinkle B. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors: GeneReviews. McDowell R. Jr , Morgan C. Byrne B. Danon M. Prall F. Arad M. Sugie K. Nishino I. Fanin M. Dougu N. Illingworth B. and Cori G. Normal and abnormal human glycogen, J Biol Chem , Forbes G.
Sentner C. This has prompted us to assess the impact of GSD I on adult life in a study sample of 34 GSD Ia and Ib patients treated in different German metabolic centres.
The median age of patients was 26 years range 17—54 years. Characteristics of the study participants are given in Table 1. None of the patients has received liver transplantation. Of the 34 patients, Educational and professional status are displayed in Fig. Education and professional life of 34 adult GSD I patients.
This was especially the case in younger patients: the median age of patients whose meals were prepared by their parents was 22 years IQR While Fourteen of 34 patients Twenty-eight of 31 patients Frequencies of diurnal and nocturnal blood glucose measurements are shown in Fig. Of these, two 8.
All patients stated that they had travelled in the past. Most of these persons were considered well-informed and competent to help in case of a hypoglycaemic event.
Most patients consider GSD I a disease with moderate severity and disease burden. Attitude toward the challenges of dietary treatment was highly variable among patients. The majority of patients thought that life with GSD I is well-manageable and patients with GSD I are able to live a normal life if certain measures are taken.
The emotions that patients reported in association with their disease are shown in Fig. The most frequently mentioned negative emotions were anxiety, fear and rage. Feelings pronounced by patients in association with their disease. The most commonly mentioned negative feelings were anxiety, fear, and rage.
The impact of GSD I perceived by the patients on different aspects of adult life is shown in Table 2. Altogether, most patients had a rather positive view on their disease and their life with the disease.
Thanks to better treatment strategies the prognosis of GSD I has markedly improved within the last decades, and many patients reach adulthood without major complications. Nevertheless, GSD I remains a challenging disorder as treatment requires meticulous adherence and planning with high impact on daily life and QoL.
Only little research has been performed on this topic in the past. This is especially true for adults with this rare metabolic disorder. We herein report data on the impact of GSD I on different aspects of adult life and perceived disease burden in 34 GSD I patients.
In most previous studies, QoL has been addressed with the use of standardized questionnaires: Storch et al. investigated psychosocial functioning of children with GSD Ia and Ib [ 25 ]. The authors studied 31 children and their parents using different questionnaires that addressed QoL, loneliness, family functioning, sibling relationship quality, parental distress, parenting stress, child adaptive behaviour, and child emotional and behavioural functioning.
The authors showed that both types of GSD I were associated with reduced QoL and independent functioning, elevated levels of internalizing distress and parental stress relative to healthy peers. Based on these results, Sechi et al.
Thirty-eight patients over 16 years median age Their results showed that also adult patients with GSD I may have an impaired QoL. Especially patients with GSD type Ib, women, and those with renal complications were more likely to experience a poorer QoL [ 21 ].
Although patients with GSD I had lower median scores in general health perception and social functioning when compared to normative data, they had higher median scores for bodily pain and mental health which might be explained by good coping strategies.
QoL data of adolescent and adult GSD I patients are also available from the Swiss hepatic glycogen storage disease registry [ 12 ]. This registry includes 27 GSD I patients between 14 and 29 years. QoL was assessed using the SF questionnaire, and in contrast to the above mentioned studies, scores in this sample were within the normal range [ 12 ].
Additionally, most patients were well integrated into social and professional life. Flanagan et al. studied eating attitudes, eating disorder symptoms, and body image among 64 patients with GSD ranging from 7 to 52 years and found a lower body esteem in children, adolescents and adults with GSD compared to population norms [ 7 ].
Interestingly, patients reported growing acceptance of their bodies with age associated with less negative attitudes and behaviours in adulthood. Our study addressed several aspects of normative adult life events as well as the disease burden perceived by the patients.
Different from the above-mentioned studies, we used a self-developed questionnaire that was tailored specifically to the challenges and burdens associated with GSD I, including aspects such as dietary management. Overall, our data demonstrate that most adult GSD I patients live an independent adult life.
Very similar findings were reported by Sechi et al. Data from the Swiss GSD registry comparably showed that most patients were employed or in vocational training with no need of supporting services [ 12 ].
About one quarter reported that parents were still mainly responsible for the preparation of meals and dietary management. Difficulty in becoming independent from parents has been observed in patients with inherited metabolic diseases in general [ 14 , 21 ]. This is well understandable considering the high level of parental involvement in disease management during infancy and childhood [ 14 , 21 ].
It is also of note, that almost half of the patients in our study preferred to be accompanied to visits in the metabolic outpatient clinic.
This includes the early involvement of the patient in the treatment and disease monitoring together with age-appropriate communication and information by doctors during outpatient visits. Providing appropriate information empowers the individual, giving them confidence to manage their disorder in the future [ 14 ].
Several patients in our study stated that results of outpatient visits such as laboratory values and necessary therapeutic adaptions were often not well communicated to them.
Living with a chronic disease might not only impact QoL due to the disorder itself, but also due to the necessary treatment, which may be a major challenge. For patients with GSD I this includes frequent meals, strict planning of activities, loss of spontaneity as well as sleep disturbances due to night-time interruptions for nocturnal corn starch intake [ 7 , 20 ].
When asked for their opinion about the severity of GSD I, most patients ranked GSD I as a disease with moderate severity and disease burden, but rated the challenges of dietary treatment as rather high. Among the aspects addressed in this study, the highest impact of GSD I was perceived on physical performance and fitness.
Additionally, some patients expressed at least some degree of uncertainty with respect to the risk of hypoglycaemia during sports. The impact of GSD I on partnership was rated low Interestingly, Sechi et al.
Impact on free time activities and friendships was also considered low by the majority of the study patients. Studying families with a child affected by a urea cycle defect, Cederbaum et al. Financial stress affects a significant proportion of patients diagnosed with a chronic illness. In addition to costs for medication that are not all covered by insurance companies, a chronic disease may have an impact on education and professional choices, but also on the fitness for work, thereby affecting the economic status.
Overall, most patients in our study had a rather positive attitude towards their disease and felt able to live a normal life if certain measures are taken.
Given the challenges and restrictions associated with GSD I this may reflect good coping strategies in most of the patients. Comparable to healthy subjects, successful coping enables individuals with a chronic illness to emphasize the positive aspects of their lives, thereby reducing general distress [ 3 , 22 ].
Coping strategies are highly variable, and the perceived disease burden of an individual patient does not automatically correlate with disease severity.
This is reflected by the fact that we did not observe significant differences in the perceived disease burden between patients with GSD Ia and GSD Ib, although GSD Ib in adulthood is usually associated with additional problems such as inflammatory bowel disease and other complications linked to neutropenia.
Sechi et al. Most patients communicated their disorder openly to family members, partners, friends, sporting comrades, teachers and colleagues. One might object that our study lacks normative data from healthy subjects and the sample possibly has selection bias only including individuals successfully coping with their condition.
However, results clearly vary in all items and clearly demonstrate that participants are neither perfectly compliant nor a selection of relatively mild forms.
Our aim was not to do a normative comparison with healthy adults, but to explore how disease-specific facets of GSD type I interfere with adult normative life-events and developmental tasks [ 17 ]. We see the significant strength of our study, that instead of using a standardised generic questionaire, describes the QoL of adults with GSD I in a way unfolding how they struggle and cope with their condition and how they live day and night , thereby providing essential information for all disciplines of the treatment team.
Our data also provide a basis for the development of a transition program for adolescents with GSD I that covers all relevant aspects adult life. The workshop based on the items of the questionnaire allows to postulate face validity, comprehensiveness, and comprehensibility of the questionnaire see methods paragraph.
Apart from linking the questionnaire to the theory of developmental tasks we do not postulate any theoretical construct why construct, convergent and discriminant validity is not claimed. However, in further studies the questionnaire can be linked to objective measures like long-term blood glucose concentrations or physical fitness.
Participants also reported behaviour not recommended for individuals with GSD I alcohol consumption why social desirability may not be a critical issue in our data. A limitation can be raised regarding the representativeness of our sample.
Members of patient organisations may be more active copers of their condition, but on the other hand non-members may feel sufficiently competent to master their condition alone. Our study demonstrated that although GSD I is a severe disease that requires lifelong therapy with strict adherence, most patients live an independent adult life and cope well with their situation.
Physicians involved in transition of GSD patients should support their patients in becoming autonomous as early as possible and address important topics such as medical monitoring, the risk of alcohol consumption, and family planning with their patients.
Patient organisations that enable exchange with peers of the same age may not only contribute to better information of patients, but also provide emotional and psychosocial support. A questionnaire was designed by two of the authors UW, paediatrician and PB, psychologist , both having long-lasting clinical experience in treatment and care of individuals with GSD I as well as patient workshops dealing with self-mangement and coping with the condition, to address important aspects of daily life with GSD I in adulthood.
physical changes and health related issues , the self achieving emotional and practical everyday independence , and social expectations preparing for a professional economic career, achieving sexual and romantic relations. Pre-diagnosed psychological conditions such as anxiety or depression were not assessed by the questionnaire.
An English translation of the questionnaire can be found in the Additional file 1 : Supplemental Material. For this study, subjects were recruited on the occasion of a workshop held at the Annual meeting of the German patient organisation for glycogen storage diseases Duderstadt and via the Metabolic Centres Freiburg and Heidelberg.
The workshop was divided in two parts. In part one participants filled in the pseudonymized questionnaire, in part two participants shared their experience with particular items of the questionnaire e. travelling, night-time feeding. During the workshop no further issues were introduced and no difficulties of item comprehensibility was reported.
The study was approved by the ethics committees of the universities Freiburg and Heidelberg EKFR Nr. org [ 18 ]. Descriptive and explorative analysis was used to describe the study sample.
Prognosis of glycogen storage disease Journal of Rare Diseases volume 16 Diabetic meal ideas, Article number: Cite this Profnosis. Metrics details. Glycogen storage Prognosis of glycogen storage disease type Prognsois GSD I is a rare autosomal recessive disorder off carbohydate metabolism characterized by recurrent hypoglycaemia and hepatomegaly. Management of GSD I is demanding and comprises a diet with defined carbohydrate intake and the use of complex carbohydrates, nocturnal tube feeding or night-time uncooked cornstarch intake, regular blood glucose monitoring and the handling of emergency situations. With improved treatment, most patients nowadays survive into adulthood.
Ich denke, dass es die ausgezeichnete Idee ist.
Im Vertrauen gesagt ist meiner Meinung danach offenbar. Versuchen Sie, die Antwort auf Ihre Frage in google.com zu suchen
Welcher unvergleichlich topic
der Maßgebliche Standpunkt, neugierig.
Ihre Frage, wie zu bewerten?