Diagnosis of glycogen storage disease -
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. Dagli A. and Smit G. Demo E. J Hepatol , Siciliano M. Yang-Feng T. Rousseau-Nepton I. Parvari R. Van Hoof F. and Hers H. Ding J. et al. Sugie H.
Bruno C. Nambu M. Tay S. Klein C. In Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors: GeneReviews. Moses S. and Parvari R.
Bao Y. and Chen Y. Lossos A. Ubogu E. McArdle B. Vissing J. and Haller R. Mommaerts W. Schmid R. and Mahler R. Tsujino S. and DiMauro S. Kubisch C. and Jentsch T. Martin M. Andreu A. Arenas J. Martinuzzi A. Manfredi G. Vladutiu G. Hicks J.
and Mierau G. Newgard C. and Lebo R. Hoogeveen I. Roscher A. Chang S. Burwinkel B. Tang N. Beauchamp N. Manzia T. Brown L. Francke U. and Kilimann M. Schneider A. Wehner M. Wuyts W. Hendrickx J. van den Berg I. Wullrich-Schmoll A. Davit-Spraul A. Maichele A. Owen D.
Tsilianidis L. Tarui S. A new type of glycogenosis, Biochem Biophys Res Commun , Nakajima H. and Yamasaki T.
Toscano A. and Musumeci O. Sharma P. and McLachlan A. Raben N. Sherman J. and Schaub J. Elpeleg O. Fanconi G. and Bickel H. Mueckler M. Fukumoto H. Permutt M. Grunert S. Orho M. Lewis G. and Stewart K. Aynsley-Green A. and Gitzelmann R. Definition of syndrome from metabolic and enzyme studies on a 9-year-old girl, Arch Dis Child , Gitzelmann R.
Rutledge S. and Steinmann B. Bachrach B. and Wolfsdorf J. Nuttall F. and Hoyt K. Shibboleth log in. GSD types VI and IX can have very mild symptoms and may be underdiagnosed or not diagnosed until adulthood.
Currently, there is no cure for GSD. Treatment will vary depending on what type of GSD your child has; however, the overall goal is to maintain the proper level of glucose in the blood so cells have the fuel they need to prevent long-term complications.
Until the early s, children with GSDs had few treatment options and none were very helpful. Then it was discovered that ingesting uncooked cornstarch regularly throughout the day helped these children maintain a steady, safe glucose level.
Cornstarch is a complex carbohydrate that is difficult for the body to digest; therefore it acts as a slow release carbohydrate and maintains normal blood glucose levels for a longer period of time than most carbohydrates in food.
Cornstarch therapy is combined with frequent meals eating every two to four hours of a diet that restricts sucrose table sugar , fructose sugar found in fruits and lactose only for those with GSD I.
Typically, this means no fruit, juice, milk or sweets cookies, cakes, candy, ice cream, etc. because these sugars end up as glycogen trapped in the liver.
Infants need to be fed every two hours. Those who are not breastfed must take lactose-free formula. Some types of GSD require a high-protein diet. Calcium, vitamin D and iron supplements maybe recommended to avoid deficits. Children need their blood glucose tested frequently throughout the day to make sure they are not hypoglycemic, which can be dangerous.
Some children, especially infants, may require overnight feeds to maintain safe blood glucose levels. For these children, a gastrostomy tube, often called a g-tube, is placed in the stomach to make overnight feedings via a continuous pump easier. The outlook depends on the type of GSD and the organs affected.
With recent advancements in therapy, treatment is effective in managing the types of glycogen storage disease that affect the liver. Children may have an enlarged liver, but as they grow and the liver has more room, their prominent abdomen will be less noticeable.
Other complications include benign noncancerous tumors in the liver, scarring cirrhosis of the liver and, if lipid levels remain high, the formation of fatty skin growths called xanthomas. To manage complications, children with GSD should been seen by a doctor who understands GSDs every three to six months.
read more to determine whether a couple is at increased risk of having a baby with a hereditary genetic disorder is also available. See also diagnosis of hereditary disorders of metabolism Diagnosis Hereditary metabolic disorders are inherited genetic conditions that cause metabolism problems.
For most types, eating many small carbohydrate-rich meals every day helps prevent blood sugar levels from dropping. For people who have glycogen storage diseases that cause low blood sugar levels, levels are maintained by giving uncooked cornstarch every 4 to 6 hours around the clock, including overnight.
For others, it is sometimes necessary to give carbohydrate solutions through a stomach tube all night to prevent low blood sugar levels from occurring at night.
People who have a glycogen storage disease that affects the muscles should avoid excessive exercise. The following are some English-language resources that may be useful. Please note that THE MANUAL is not responsible for the content of these resources.
National Organization for Rare Disorders NORD : This resource provides information to parents and families about rare diseases, including a list of rare diseases, support groups, and clinical trial resources.
Genetic and Rare Diseases Information Center GARD : This resource provides and easy to understand information about rare or genetic diseases. Learn more about the MSD Manuals and our commitment to Global Medical Knowledge. Disclaimer Privacy Terms of use Contact Us Veterinary Edition.
IN THIS TOPIC. OTHER TOPICS IN THIS CHAPTER. Symptoms Diagnosis Treatment More Information. Missing one of the enzymes that is essential to forming glucose into glycogen.
Blood tests, biopsy, and magnetic resonance imaging. Carbohydrate-rich diet. Prevention of low blood sugar through frequent or nearly continuous feedings. All rights reserved. Was This Page Helpful?
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Glycogen storage diseases are carbohydrate metabolism disorders Overview of Glycgen Metabolism Disorders Carbohydrate ztorage disorders are Sports performance mindset metabolic disorders. Diagnosis of glycogen storage disease disorders occur when parents pass Diagnoeis defective Diagnosis of glycogen storage disease that cause these disorders on to their children. read more that Conscious eating when Risease is a defect in the enzymes that are involved in the metabolism of glycogen, often resulting in growth abnormalities, weakness, a large liver, low blood sugar, and confusion. Glycogen storage diseases occur when parents pass the defective genes Genes Genes are segments of deoxyribonucleic acid DNA that contain the code for a specific protein that functions in one or more types of cells in the body or the code for functional ribonucleic read more that cause these diseases on to their children. Orphanet Journal blycogen Rare Diet and blood sugar spikes volume 15Article number: Cite this article. Disese details. Fisease storage diseases Air displacement assessment with liver diswase are complex disorders with similar Dieease. Currently, the main diagnostic methods such Intermittent fasting method tissue diagnosis, either histopathology Diagnosie enzyme assay, are invasive. Meanwhile, GSDs are diseases with significant genetic heterogeneity, and gene-sequencing methods can be more useful. This systematic review aims to review the literature to assess the value of massively parallel sequencing in the diagnosis of GSDs on patients with previously undiagnosed hepatic involvement. Publications were included in the review if they analyzed GSDs with hepatic involvement GSD I, GSD III, GSD IV, GSD VI, GSD IXusing targeted gene sequencing TGS or exome sequencing ES.
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