In: StatPearls Glycoggen. Learn More. Your Email Goycogen. Un cas d'hypoglycemie avec Citrus oil for natural home fragrance chez un enfant. Thus, vascular dysfunction with early atherosclerosis or early coronary artery disease could occur in individuals with GSD III. However, in some instances, symptoms may be severe.

Glycogen storage disease type -

This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.

Glycogen storage disease type V. Description Glycogen storage disease type V also known as GSDV or McArdle disease is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells.

Frequency GSDV is a rare disorder; however, its prevalence is unknown. Causes Mutations in the PYGM gene cause GSDV. Learn more about the gene associated with Glycogen storage disease type V PYGM.

Inheritance This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. Other Names for This Condition Glycogen storage disease type 5 Glycogenosis 5 GSD type V GSD V McArdle disease McArdle syndrome McArdle type glycogen storage disease McArdle's disease Muscle glycogen phosphorylase deficiency Muscle phosphorylase deficiency Myophosphorylase deficiency PYGM deficiency.

Genetic and Rare Diseases Information Center Glycogen storage disease type 5. Patient Support and Advocacy Resources Disease InfoSearch National Organization for Rare Disorders NORD. Clinical Trials ClinicalTrials. Catalog of Genes and Diseases from OMIM GLYCOGEN STORAGE DISEASE V; GSD5.

Scientific Articles on PubMed PubMed. References Aquaron R, Berge-Lefranc JL, Pellissier JF, Montfort MF, Mayan M, Figarella-Branger D, Coquet M, Serratrice G, Pouget J. Molecular characterization of myophosphorylase deficiency McArdle disease in 34 patients from Southern France: identification of 10 new mutations.

Absence of genotype-phenotype correlation. Neuromuscul Disord. doi: Epub Feb Citation on PubMed Bruno C, Cassandrini D, Martinuzzi A, Toscano A, Moggio M, Morandi L, Servidei S, Mongini T, Angelini C, Musumeci O, Comi GP, Lamperti C, Filosto M, Zara F, Minetti C.

McArdle disease: the mutation spectrum of PYGM in a large Italian cohort. Hum Mutat. Citation on PubMed Deschauer M, Morgenroth A, Joshi PR, Glaser D, Chinnery PF, Aasly J, Schreiber H, Knape M, Zierz S, Vorgerd M. Analysis of spectrum and frequencies of mutations in McArdle disease.

Identification of 13 novel mutations. J Neurol. Epub Apr 3. Citation on PubMed Gurgel-Giannetti J, Nogales-Gadea G, van der Linden H Jr, Bellard TM, Brasileiro Filho G, Giannetti AV, de Castro Concentino EL, Vainzof M.

Clinical and molecular characterization of McArdle's disease in Brazilian patients. Neuromolecular Med. Epub May 8.

Citation on PubMed Lucia A, Nogales-Gadea G, Perez M, Martin MA, Andreu AL, Arenas J. McArdle disease: what do neurologists need to know? In patients with GSD I, cornstarch has been used for the treatment of hypoglycemia as its slow digestion provides a steady release of glucose. This maintains the glucose levels for longer periods of time.

In young children, 1. While older children, adolescents, and adults, are given 1. All patients with GSD I should wear a medical alert bracelet.

Along with blood glucose monitoring, a lactate meter can be a good tool to alert the parents especially in times of emergency. Hypoglycemia should be treated immediately with a fast-acting glucose source such as cornstarch or commercially prepared glucose polymers or over-the-counter diabetic glucose tablets.

Patients with GSD Ib have an increased risk of infections at the surgical site for G-tube due to neutropenia. Therefore granulocyte colony-stimulating factor G-CSF is administered before placing a G-tube.

The patients that receive G-CSF need a complete blood count CBC evaluation monthly along with the measurement of their spleen. To avoid pump failures and occluded or disconnected tubing, bed-wetting devices that detects formula spilling onto the bed, infusion pump alarms, safety adapters, connectors, and tape for tubing is recommended as safety precautions.

Limiting foods rich in lactose and sucrose such as fruits, juice, and dairy puts a child at risk for nutritional deficiency. The child should be carefully assessed, and diet should be supplemented with adequate micronutrients.

Oral citrate or bicarbonate is used to treat patients with persistent lactic acidosis. These agents alkalinize the urine and reduce the risk of urolithiasis and nephrocalcinosis. Allopurinol reduces uric acid levels preventing recurrent attacks of gout. However, during an acute attack, Colchicine is preferred.

Hyperlipidemia has only shown a partial response to medical intervention with statins, niacin, fibrates, and fish oil along with dietary interventions such as consuming medium-chain triglyceride milk.

Its resolution has been reported with liver transplantation. Starting from infancy, systemic blood pressure measurement should be checked on every office visit while serum creatinine is evaluated every 3 to 6 months to monitor renal function.

Patients with persistent microalbuminuria should be treated with an angiotensin-converting enzyme ACE inhibitor to prevent worsening of renal function.

Patients with GSD I have hepatomegaly universally due to fat and glycogen deposition in the liver. The common liver lesions seen in patients with GSD Ia include focal fatty infiltration, focal fatty sparing, focal nodular hyperplasia, peliosis hepatis, hepatocellular adenoma HCA , and hepatocellular carcinoma HCC.

Therefore, a liver function test should be repeated every 6 to 12 months. Liver transplantation is an option for patients with multifocal growing lesions that do not respond to primary treatment.

As per guidelines for the management of GSD I published by the collaborative European study [8] , the following biomedical targets are recommended:. It is important to differentiate GSD I from other diseases that present with hepatomegaly and or hypoglycemia.

Dietary therapy is the first line treatment for patients with GSD I. However, to prevent long-term complications of the disease such as hepatocellular adenoma HCA , hepatocellular carcinoma HCC , renal failure among others, gene therapy in animal models of GSD is showing potential for the future trial in humans.

The most likely etiology for HCC is the transformation of adenomas to carcinoma. In such patients, the diagnosis of HCC is challenging due to the abundance of adenomas making biopsy difficult along with normal levels of biomarkers like a-fetoprotein and carcinoembryonic antigen.

If a hepatic adenoma is detected, liver ultrasound or MRI examinations is repeated every 3 to 6 months. Due to an increased risk of developing HCA, female patients with GSD I should avoid combined oral contraception. Patients with GSD I may develop bleeding disorders from impaired platelet function.

There is also an increased risk of osteoporosis and fractures from vitamin D deficiency. Therefore, routine monitoring of vitamin D levels along with dual-energy x-ray absorptiometry DXA scans is recommended to monitor the bone density and the need for vitamin D supplementation.

Renal failure may occur due to proximal renal tubular or renal glomerular dysfunction. Thus patients then develop anemia of chronic kidney disease that may be further exacerbated by iron deficiency, chronic metabolic acidosis or bleeding diathesis.

Anemic patients are treated with EPO therapy after screening them for iron deficiency and replenishing their iron stores. Patients with uncontrolled blood lactate, serum lipids, and uric acid levels are also at an increased risk for nephropathy that may need renal transplantation.

Therefore, an annual ultrasound examination of the kidneys is recommended after the first decade of life. Other complications include menorrhagia and polycystic ovaries in females, and gout from hyperuricemia.

Dietary therapy maintains the patient's blood glucose levels and reduces the early symptoms. However, to avoid long-term complications such as HCA, HCC, and renal failure, gene therapies in GSD I mice models showed promise. Types of glycogen storage diseases Contributed by William L.

Disclosure: Nirzar Parikh declares no relevant financial relationships with ineligible companies. Disclosure: Rajni Ahlawat declares no relevant financial relationships with ineligible companies. This book is distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives 4.

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Affiliations 1 Jaslok Hospital and Research Centre. Continuing Education Activity Glycogen storage disease type I GSD I , also known as Von Gierke disease, is an inherited disorder caused by deficiencies of specific enzymes in the glycogen metabolism pathway.

Introduction Glycogen storage disease type I GSD I , also known as Von Gierke disease, is an inherited disorder caused by deficiencies of specific enzymes in the glycogen metabolism pathway.

Etiology GSD Ia results from mutations in the G6PC gene on chromosome 17q21 that encodes for the G6Pase-a catalytic subunit. Pathophysiology The enzyme G6Pase is primarily expressed in the liver, kidney, and intestine.

Histopathology The availability of gene sequencing makes liver biopsy unnecessary. History and Physical Some patients with GSD I may present with hypoglycemia and lactic acidosis in the neonatal period. Evaluation Initial laboratory findings in patients with GSD I will show hypoglycemia, lactic acidosis, hyperuricemia, hypercholesterolemia, and hypertriglyceridemia.

Differential Diagnosis It is important to differentiate GSD I from other diseases that present with hepatomegaly and or hypoglycemia. Pertinent Studies and Ongoing Trials Dietary therapy is the first line treatment for patients with GSD I.

Medical Oncology The most likely etiology for HCC is the transformation of adenomas to carcinoma. Complications Patients with GSD I may develop bleeding disorders from impaired platelet function. Enhancing Healthcare Team Outcomes Dietary therapy maintains the patient's blood glucose levels and reduces the early symptoms.

Review Questions Access free multiple choice questions on this topic. Comment on this article. Figure Types of glycogen storage diseases Contributed by William L.

References 1. 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.

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med. Raza M, Arif F, Giyanwani PR, Azizullah S, Kumari S. Dietary Therapy for Von Gierke's Disease: A Case Report. Chou JY, Kim GY, Cho JH.

Recent development and gene therapy for glycogen storage disease type Ia. Liver Res. McAdams AJ, Hug G, Bove KE. Glycogen storage disease, types I to X: criteria for morphologic diagnosis. Hum Pathol.

Goldberg T, Slonim AE. Nutrition therapy for hepatic glycogen storage diseases. J Am Diet Assoc. Nagasaka H, Hirano K, Ohtake A, Miida T, Takatani T, Murayama K, Yorifuji T, Kobayashi K, Kanazawa M, Ogawa A, Takayanagi M. Improvements of hypertriglyceridemia and hyperlacticemia in Japanese children with glycogen storage disease type Ia by medium-chain triglyceride milk.

Eur J Pediatr. Carvalho PM, Silva NJ, Dias PG, Porto JF, Santos LC, Costa JM. Glycogen Storage Disease type 1a - a secondary cause for hyperlipidemia: report of five cases.

Glycogen Syorage Disease Type Glycogen storage disease type GSDIbalso Glycoogen von Gierke disease, is an inherited disorder in Glycogen storage disease type the body sleep disorders affecting wakefulness an enzyme called glucosephosphate translocase. GSDIb is stoarge by mutations in fype SLC37A4 dusease. Glycogen storage disease type deficiency of glucosephosphate translocase impairs the body's ability to breakdown a stored form of sugar, called glycogen, into glucose. As a result, the body cannot maintain normal blood-sugar levels between meals, leading to low blood sugar hypoglycemia. Also, glycogen builds up in the body and impairs the function of the liver, the kidneys, and other organs. Children with GSDIb appear normal at birth but usually begin to show symptoms when they start to sleep longer through the night.

Glycogen storage disease type -

An enlarged liver may give the appearance of a protruding abdomen. The kidneys may also be enlarged. Affected individuals may also have diarrhea and deposits of cholesterol in the skin xanthomas.

People with GSDI may experience delayed puberty. Beginning in young to mid-adulthood, affected individuals may have thinning of the bones osteoporosis , a form of arthritis resulting from uric acid crystals in the joints gout , kidney disease, and high blood pressure in the blood vessels that supply the lungs pulmonary hypertension.

Females with this condition may also have abnormal development of the ovaries polycystic ovaries. In affected teens and adults, tumors called adenomas may form in the liver. Adenomas are usually noncancerous benign , but occasionally these tumors can become cancerous malignant.

Researchers have described two types of GSDI, which differ in their signs and symptoms and genetic cause. These types are known as glycogen storage disease type Ia GSDIa and glycogen storage disease type Ib GSDIb.

Two other forms of GSDI have been described, and they were originally named types Ic and Id. However, these types are now known to be variations of GSDIb; for this reason, GSDIb is sometimes called GSD type I non-a. Many people with GSDIb have a shortage of white blood cells neutropenia , which can make them prone to recurrent bacterial infections.

Neutropenia is usually apparent by age 1. Many affected individuals also have inflammation of the intestinal walls inflammatory bowel disease. People with GSDIb may have oral problems including cavities, inflammation of the gums gingivitis , chronic gum periodontal disease, abnormal tooth development, and open sores ulcers in the mouth.

The neutropenia and oral problems are specific to people with GSDIb and are typically not seen in people with GSDIa. The overall incidence of GSDI is 1 in , individuals. GSDIa is more common than GSDIb, accounting for 80 percent of all GSDI cases. Mutations in two genes, G6PC and SLC37A4 , cause GSDI.

G6PC gene mutations cause GSDIa, and SLC37A4 gene mutations cause GSDIb. The proteins produced from the G6PC and SLC37A4 genes work together to break down a type of sugar molecule called glucose 6-phosphate. The breakdown of this molecule produces the simple sugar glucose, which is the primary energy source for most cells in the body.

Mutations in the G6PC and SLC37A4 genes prevent the effective breakdown of glucose 6-phosphate. Glucose 6-phosphate that is not broken down to glucose is converted to glycogen and fat so it can be stored within cells. Too much glycogen and fat stored within a cell can be toxic.

This buildup damages organs and tissues throughout the body, particularly the liver and kidneys, leading to the signs and symptoms of GSDI. This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.

The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. The information on this site should not be used as a substitute for professional medical care or advice.

Contact a health care provider if you have questions about your health. Glycogen storage disease type I. Description Glycogen storage disease type I also known as GSDI or von Gierke disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells.

Frequency The overall incidence of GSDI is 1 in , individuals. Causes Mutations in two genes, G6PC and SLC37A4 , cause GSDI.

Learn more about the genes associated with Glycogen storage disease type I G6PC SLC37A4. Inheritance This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation.

Ann Neurol. Epub Jun 3. Neuromuscular Disorders. A case of myopathy associated with a dystrophin gene deletion and abnormal glycogen storage. Muscle Nerve. February Pediatric Neurology. Acta Myologica. Annals of Indian Academy of Neurology. Practical Neurology. Retrieved May 24, MedLink Neurology.

Biochemical Journal. April Clinical Physiology. Journal of Thyroid Research. Living With McArdle Disease PDF. IamGSD Internation Association for Muscle Glycogen Storage Disease. Orphanet Journal of Rare Diseases. Molecular Genetics and Metabolism Reports. Frontiers in Neurology.

North American Journal of Medical Sciences. Frontiers in Physiology. ISSN X. June Endocrinologia Japonica. Journal of Cachexia, Sarcopenia and Muscle.

Journal of Pediatric Neurosciences. Journal of the Neurological Sciences. Brain: A Journal of Neurology. Human Mutation. NORD National Organization for Rare Disorders.

Retrieved 23 March British Journal of Sports Medicine. Journal of Inborn Errors of Metabolism and Screening. Classification D. ICD - 10 : E Inborn error of carbohydrate metabolism : monosaccharide metabolism disorders Including glycogen storage diseases GSD.

Congenital alactasia Sucrose intolerance. Glucose-galactose malabsorption Inborn errors of renal tubular transport Renal glycosuria Fructose malabsorption De Vivo Disease GLUT1 deficiency Fanconi-Bickel syndrome GLUT2 deficiency.

Essential fructosuria Fructose intolerance. GSD type 0 glycogen synthase deficiency GSD type IV Andersen's disease, branching enzyme deficiency Adult polyglucosan body disease APBD Lafora disease GSD type XV glycogenin deficiency.

GSD type III Cori's disease, debranching enzyme deficiency GSD type VI Hers' disease, liver glycogen phosphorylase deficiency GSD type V McArdle's disease, myophosphorylase deficiency GSD type IX phosphorylase kinase deficiency Phosphoglucomutase deficiency PGM1-CDG, CDG1T, formerly GSD-XIV.

Glycogen storage disease type II Pompe's disease, glucosidase deficiency, formerly GSD-IIa Danon disease LAMP2 deficiency, formerly GSD-IIb. Pyruvate carboxylase deficiency Fructose bisphosphatase deficiency GSD type I von Gierke's disease, glucose 6-phosphatase deficiency.

Glucosephosphate dehydrogenase deficiency Transaldolase deficiency SDDHD Transketolase deficiency 6-phosphogluconate dehydrogenase deficiency.

Hyperoxaluria Primary hyperoxaluria Pentosuria Fatal congenital nonlysosomal cardiac glycogenosis AMP-activated protein kinase deficiency, PRKAG2.

Authority control databases : National Japan. Diseases of muscle , neuromuscular junction , and neuromuscular disease. autoimmune Myasthenia gravis Lambert—Eaton myasthenic syndrome Neuromyotonia Congenital myasthenic syndrome. Limb-girdle muscular dystrophy 1 Oculopharyngeal Facioscapulohumeral Myotonic Distal most.

Calpainopathy Limb-girdle muscular dystrophy 2 Congenital Fukuyama Ullrich Walker—Warburg. dystrophin Becker's Duchenne Emery—Dreifuss. collagen disease Bethlem myopathy PTP disease X-linked MTM adaptor protein disease BIN1-linked centronuclear myopathy cytoskeleton disease Nemaline myopathy Zaspopathy.

Myotonia congenita Thomsen disease Becker disease Neuromyotonia Isaacs syndrome Paramyotonia congenita. Hypokalemic Thyrotoxic Hyperkalemic. Central core disease. Brody disease ATP2A1. Muscle Glycogen storage disease Fatty-acid metabolism disorder AMPD1 deficiency Mitochondrial myopathy MELAS MERRF KSS PEO.

Hypothyroid myopathy Kocher—Debre—Semelaigne syndrome Hoffmann syndrome Hyperthyroid myopathy Thyrotoxic myopathy Hypoparathyroid myopathy Hyperparathyroid myopathy Hypercortisolism Corticosteroid myopathy Testosterone deficiency myopathy Late-onset hypogonadism Hypogonadotropic hypogonadism Androgen deficiency.

Inflammatory myopathy Congenital myopathy. Symptoms and conditions relating to muscle. Myalgia Fibromyalgia Acute Delayed onset.

Myositis Pyomyositis Myoedema Hypothyroid myopathy. Categories : Inborn errors of carbohydrate metabolism Hepatology Rare diseases Diseases of liver Muscular disorders Metabolic disorders. Hidden categories: CS1 errors: missing periodical CS1 errors: periodical ignored Articles with short description Short description is different from Wikidata All articles with unsourced statements Articles with unsourced statements from December Articles with NDL identifiers.

Toggle limited content width. GSD 0 Lewis' disease [5]. Muscle 0b Glycogen deficiency in muscle fibres. Type I muscle fibre predominance. Exercise-induced, muscle fatigue, myalgia, fainting.

Liver 0a Growth failure in some cases. Liver 0a Epilepsy [9] Muscle 0b Rarely epilepsy, tonic-clonic seizures. Lactic acidosis , hyperuricemia. Acid alpha-glucosidase GAA Lysosome-associated membrane protein 2 LAMP2. Pompe disease is 1 in 13, Muscle weakness , exercise intolerance , abnormal lysosomal glycogen accumulation in muscle biopsy.

Late-onset Pompe may have a pseudoathletic appearance of hypertrophic calf muscles. Progressive proximal skeletal muscle weakness with varied timeline to threshold of functional limitation early childhood to adulthood. Heart failure infantile , respiratory difficulty due to muscle weakness.

Glycogen debranching enzyme AGL. May have a pseudoathletic appearance of hypertrophic muscles. Failure to thrive [17]. Glycogen branching enzyme GBE1.

Failure to thrive , death at age ~5 years. Muscle glycogen phosphorylase PYGM. Exercise-induced muscle fatigue and cramps. Rhabdomyolysis possible. May have a pseudoathletic appearance of hypertrophic calf muscles.

Renal failure by myoglobinuria , second wind phenomenon , inappropriate rapid heart rate sinus tachycardia response to exercise, myogenic hyperuricemia [18].

Liver glycogen phosphorylase PYGL. Muscle phosphofructokinase PFKM. developmental delay. In some haemolytic anaemia , myogenic hyperuricemia [18]. IXd Exercise-induced muscle cramps, stiffness, weakness fatigue , and pain. Liver type: Delayed motor development , Developmental delay.

Muscle Phosphoglycerate mutase PGAM2. Exercise-induced muscle cramps and weakness [26]. Myoglobinuria [27]. Muscle lactate dehydrogenase LDHA.

Glucose transporter GLUT2. Aldolase A ALDOA. Exercise intolerance , cramps. In some Rhabdomyolysis. Hemolytic anemia and other symptoms. β-enolase ENO3. Increasing intensity of myalgias over decades [29].

Serum CK : Episodic elevations; Reduced with rest [29]. Phosphoglucomutase-1 PGM1. Two forms: exclusively myopathic and multi-system including muscles. Short stature, some have developmental delay, and rarely delayed puberty. Highly variable phenotype and severity.

Commonly elevated serum CK, abnormal serum transferrin loss of complete N-glycans , short stature, cleft palate, bifid uvula, and hepatopathy.

Glycogenin-1 GYG1.

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Von Gierke disease - Type I glycogen storage disease (GSD I) - Glycogen metabolism