Dietary management in glycogen storage disease type iii. Feb, 2012 glycogen storage disease type 3 gsdiii is an inherited disorder caused by the buildup of glycogen in the bodys cells. During follow up, history of documented hypoglycaemia, clinical parameters growth, liver size, motor development, neuromuscular parameters, laboratory parameters glucose, lactate, alat, cholesterol, triglycerides, creatine kinase and ketones and cardiac parameters. G6pt1 is also the site of the defect in glycogen storage disease ib gsd1b. Case reports in medicine hindawi publishing corporation. Glycogen storage disease type iv is autosomal recessive, which means each parent has a mutant copy of the gene but show no symptoms of the disease.
Pathological features of glycogen storage disease type ii highlighted in the knockout mouse model. Pdf consensus guidelines for management of glycogen. Often, infants born with gsd iv are diagnosed with enlarged livers and failure to thrive. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Pdf consensus guidelines for management of glycogen storage. Glycogen storage disease type 3 gsd type 3 is an inherited metabolic condition. Correction of glycogen storage disease type 1a in a mouse model by gene therapy. Frequent feeds with carbohydraterich meals or continuous enteral feeding has been the therapy of choice in glycogen storage disease glycogenosis type iii. Autosomal recessive genetic disorder results in lack of enzyme glucose6. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally.
Glycogen storage disease type iii nord national organization. It has to be kept in mind whenever important hepatomegaly andor hypoglycemia are present. Glycogen storage diseases glycogen storage disease is the result of defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types the gsds can be divided in three main groups. Gde deficiency, or glycogen storage disease type 3 gsd 3, is a form of glycogen storage disease characterized by. Limit simple sugars to less than 510 grams per meal miscellaneous. The following points highlight the top ten types of glycogen storage diseases. The more common glycogen storage disease type 1 occur about one in every 100,000 births, while frequency of less common forms such as type ii had not yet been determined. Glycogen storage disease type iii nord gratefully acknowledges terry g. Re sults of the european study on glycogen storage disease t ype i. Alonso, in pediatric gastrointestinal and liver disease fourth edition, 2011. Glycogen storage disease type 3 gsdiii is an inherited disorder caused by. May 15, 2020 type 1 glycogen storage disease gsd1 is an autosomal recessive disorder that was first described in 1929 by e. Glycogen storage disease type iii gsd iii is characterized by variable liver, cardiac muscle, and skeletal muscle involvement. Gsd type 3a patients lack glycogen debrancher enzyme activity in both liver and muscle, while gsd type 3b patients are enzymedeficient in liver only.
This article, however, will only cover the first eight, not counting the subtypes within each type. In regards to genetics glycogen storage disease type iii is inherited in an autosomal recessive pattern which means both parents need be a carrier, and occurs in about 1 of every 100,000 live births. Glycogen storage disease type i glycogen storage disease. Gondal anita khalil glycogen storage disease gsd type iii is caused by deficiency of the enzyme amylo1,6 glucosidase debranching enzyme leading to the storage of an abnormal glycogen with short outer chains called limit dextrinsl. This means that mutations in both copies of the diseasecausing gene usually one inherited from each parent are necessary to cause the condition. Glycogen storage disease type v gsdv is a metabolic disorder, more specifically a glycogen storage disease, caused by a deficiency of myophosphorylase. General nutrition guidelines for glycogen storage disease type 0 glycogen storage disease type 0 gsd 0 is a genetic metabolic disorder which causes the inability to break down glycogen to glucose. The invitae comprehensive glycogen storage disease panel analyzes 25 genes associated with various glycogen storage diseases gsds.
Results of the european study on glycogen storage disease type i. Recent developments, management and outcome fulda, germany. Hepatocellular adenomas in glycogen storage disease type i and iii. Symptoms vary by the glycogen storage disease gsd type and can include muscle. Recall that glycogen storage disease results from genetic mutations that disrupt the storage and breakdown of glycogen. Glycogen storage disease type 3 includes different forms. The disease is caused by increased glucose accumulation in the liver. Examples of simple sugars are cookies, cakes, pies, doughnuts, and ice cream, etc. Aggressive therapy improves cirrhosis in glycogen storage disease type ix. Glycogen storage disease type iii in inuit children.
The highest incidence of glycogen storage disease type iii is in the faroe islands where it occurs in 1 out of every 3,600 births, probably due to a founder effect. Gsd iiib, with liver involvement only, comprises about 15% of all gsd iii. Gsd iii results from deficient glycogen debrancher enzyme activity, which has two independent catalytic activities. Aug 28, 2014 in childhood, gsd type iii causes relatively severe fasting intolerance, classically associated with ketotic hypoglycaemia. Glycogenstorage disease gsd type iii gsd iii is an autosomal recessive inborn error of metabolism caused by loss of function mutations of the glycogen. Derks, md, phd, and irene hoogeveen, mdphdstudent, section of metabolic diseases, beatrix childrens hospital, university. This buildup impairs the function of certain organs and tissues, especially the liver and muscles. Definition glycogen serves as the primary fuel reserve for the bodys energy needs. Glycogen storage disease type iii indian pediatrics. Glycogen storage disease due to glycogen debranching enzyme deficiency.
Nih does not independently verify information submitted to the gtr. Glycogen storage disease type vii gsdvii is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. Seven patients with glycogen storage disease type ib suffering from severe andor recurrent bacterial infections were treated with glycosylated recombinant gcsf lenograstim. Mutations in the glucose6phosphatase gene that cause glycogen storage disease type 1a. Clinical features help list of clinical features of the conditionphenotype displayed from sources such as the human phenotype ontology hpo and omim.
Nursing care self family care date and sign countersign any changes 1. This panel may be appropriate for individuals with signs and. Glycogen storage disease type ii gsd ii, or pompe disease, is primarily classified by the age of onset, rate of progression severity, and the organ involvement. Hepatomegaly is often present at birth and can progresses to huge. Glycogen storage disease type iii diagnosis and management guidelines. Gondal anita khalil glycogen storage disease gsd type iii is caused by deficiency of the enzyme amylo1,6 glucosidase. Labrune p, trioche p, duvaltier i, chevalier p, odievre m. Glycogen storage disease type iii gsd iii is an inherited metabolic disease caused by deficiency of the glycogen. By sequencing genomic dna in a mennonite family segregating glycogen storage disease vi, chang et al. The liver gsd subtypes cause fasting intolerance types 0, ia, ib, iii, vi, ix and xi or liver failure type iv, with or without muscle symptoms.
It is clinically characterized by hepatomegaly, hypoglycemia, short stature, and variable myopathy. Vassili valayannopoulos, in handbook of clinical neurology, 20. Annabi b, hiraiwa h, mansfield bc et al 1998 the gene for glycogenstorage disease type 1b maps to chromosome 11q23. Glycogen storage disease type i genetics home reference. Glycogen storage disease type iii, also known as coris disease, forbes disease or limit dextrinosis, is characterized by deficiency of the cytosolic debrancher enzyme. Gsd i causes the inability of the liver to breakdown. Genetic studies in glycogen storage disease type 3. Glycogen storage disease type iii gsdiii is a rare disorder of glycogenolysis due to agl gene mutations, causing glycogen debranching enzyme deficiency and storage of limited dextrin. Glycogen storage disease type iii genetics home reference nih. Glycogen storage disease type iv gsd type iv is an.
Type i glycogen storage disease is associated with abnormalities in two genes. Hepatic glycogenosis due to phosphorylase deficiency. It affects 1 in 800,000 individuals worldwide, with 3 % of all glycogen storage diseases being type iv. Glykogenose typ iii morbus cori glykogenose selbsthilfe. Glycogen storage disease type iv gsd type iv is an extremely rare condition, representing only 0. Molecular genetic basis and prevalence of glycogen storage disease type iiia in the faroe islands. Glycogen storage disease type 3 genetic and rare diseases nih. The disease results in various complications as described in the article. Derks, md, phd, and irene hoogeveen, mdphdstudent, section of metabolic diseases, beatrix childrens hospital, university medical center groningen, university of groningen, groningen, the netherlands, and matthew kruchten, nord editorial intern from the university of. Patients with gsdiiia show involvement of liver and cardiacskeletal muscle, whereas gsdiiib patients display only liver symptoms and signs. In this condition, glycogen can be stored in the body but cannot be released when needed for energy. General nutrition guidelines for glycogen storage disease type i glycogen storage disease type i gsdi is a genetic metabolic disorder of the liver.
Glucose sugar is the main source of fuel for the body and brain. Glycogen storage diseases definition of glycogen storage. Effect of continuous gucose therapy with uncooked cornstarch on the longterm clinical course of type 1a glycogen storage disease. The severity of this disease varies on the amount of enzyme produced. Glycogen storage disease type iii genetics home reference. General nutrition guidelines for glycogen storage disease type iii. Often, infants born with gsd iv are diagnosed with enlarged livers and failure to thrive within their first year of life. Association for glycogen storage disease uk pompe disease page, united kingdom association francophone des glycogenoses french glycogen storage disease association rue g. University of florida glycogen storage disease program. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for glycogen storage disease. If you have problems viewing pdf files, download the latest version of adobe reader. Believe it or not, there are at least 16 types of gsd type 0 through 15. Glycogen storage disease type i is a rare condition, but with possible lifethreatening consequences. Gsd i causes the inability of the liver to breakdown glycogen to glucose which the body uses as its main source of fuel.
Glycogen storage disease type 3 gsdiii is inherited in an autosomal recessive manner. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. Pompe disease glycogen storage disease type ii pompe disease, also termed glycogen storage disease type ii or lysosomal acid. Glycogen storage disease type iii is a rare disease of variable clinical severity affecting primarily the liver, heart, and skeletal muscle. Glycogen storage diseases glycogen storage disease is the result of defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types the gsds. Limitations of enzyme studies on liver biopsy specimens. Medical nutrition therapy diet glycogen storage disease 1.
For language access assistance, contact the ncats public information officer. Glycogen storage disease type iii cori disease debranching enzyme both aspects deficient findings. Glycogen storage disease type iii sandeep kapoor p. During follow up, history of documented hypoglycaemia. Informationen zur seltenen stoffwechselstorung glykogenose typ iii, auch bekannt. Glycogen storage disease type iii is an autosomal recessive metabolic disorder and inborn error of metabolism specifically of carbohydrates characterized by a. Glycogen storage disease type iii diagnosis and management. Test invitae comprehensive glycogen storage disease panel. Glycogen storage diseases, also known as glycogenoses, are genetically linked metabolic disorders that involve the enzymes regulating glycogen metabolism. Glycogen storage disease type iii also known as gsdiii or cori disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the bodys cells. Glycogen storage disease type iii gsdiii is a genetic metabolic disorder which causes the inability to break down glycogen to glucose.
Glycogen is a branchedchain polymer of glucose and serves as a dynamic but limited reservoir of glucose, mainly in liver, skeletal muscle, heart, and sometimes the central nervous system. Glycogen storage disease type 3 genetic and rare diseases. For more information about the disease, please go to the disease information page. Onset is generally apparent in the first month of life with symptoms of hypotonia, systemic muscle weakness, cardiomegaly and hypertrophic cardiomyopathy, feeding difficulties. Online mendelian inheritance in man omim glycogen storage disease vi, gsd6. Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. Type 1 glycogen storage disease gsd1 is an autosomal recessive disorder that was first described in 1929 by e. Enable javascript to view the expandcollapse boxes.
For language access assistance, contact the ncats public. Gsd iiia is the most common subtype, present in about 85% of affected individuals. Glycogen storage disease type iv is autosomal recessive, which means each parent has a mutant copy of the gene but show no. Observe and document any overt or subtle signs of hypoglycaemia. Glycogen storage disease due to glycogen debranching. Glycogen storage disease type i nord national organization. Glycogen storage disease type 3 glycogen storage disease type iii gsdiii is an autosomal recessive disorder caused by a deficiency of glycogen debranching enzyme activity, leading to the accumulation of glycogen in the liver and muscle.
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