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Glycogen storage disease due to glycogen debranching enzyme deficiency

Orpha number ORPHA366
Synonym(s) Amylo-1,6-glucosidase deficiency
Cori disease
Cori-Forbes disease
Forbes disease
GDE deficiency
GSD due to glycogen debranching enzyme deficiency
GSD type 3
GSDIII
Glycogen storage disease type 3
Glycogenosis due to glycogen debranching enzyme deficiency
Glycogenosis type 3
Limit dextrinosis
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10
  • E74.0
ICD-O -
OMIM
UMLS
  • C0017922
  • C2936915
MeSH -
MedDRA
  • 10053250

Summary

Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy. Estimated prevalence is approximately 1/100,000 births (it may be higher among North Africans). GSD 3 commonly occurs in early childhood. Children present with hepatomegaly, growth retardation and occasional seizures related to hypoglycemia. Hepatomegaly may disappear with adulthood. Muscle weakness is slowly progressive. Other frequently associated signs include muscular hypotonia and hypertrophic cardiomyopathy. Symptoms often improve at puberty, except in the few cases where cirrhosis or myopathy appears. Biological findings include hypoglycemia without acidosis, hypertriglyceridemia, and hypertransaminasemia during childhood. The disease is caused by mutations in the AGL gene (1p21), leading to a deficiency in the GDE that works with the glycogen phosphorylase to catabolize glycogen. The deficiency may occur in the liver and muscle (GSD 3a) or only in the liver (GSD 3b). Transmission is autosomal recessive. The diagnosis is based on the evidence of enzymatic deficiency in fresh leukocytes, fibroblasts, or on a liver or a muscle biopsy. Unlike GSD type 1 (see this term), there is a response to glucagon after meals. Differential diagnoses include the other forms of glycogen storage diseases (see these terms). Prenatal diagnosis is possible by enzyme assay and/or DNA analysis. Treatment is based on a specific diet, with enteral nasogastric drip feeding at night in case of hypoglycemia, frequent meals, and uncooked starch supplements. For patients with myopathy, a high protein diet is also recommended. Rarely, patients may develop complications such as hepatic failure or hepatocellular carcinoma.

Expert reviewer(s)

  • Dr Roseline FROISSART

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Detailed information

Summary information
Emergency guidelines
  • EN (2012,pdf)
Clinical practice guidelines
  • EN (2010)Patient Inform
Clinical genetics review
  • EN (2012)
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