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glycogen storage disease due to glycogen branching enzyme deficiency

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases.
Uniprot Description A metabolic disorder characterized by the accumulation of an amylopectin-like polysaccharide. The typical clinical manifestation is liver disease of childhood, progressing to lethal hepatic cirrhosis. Most children with this condition die before two years of age. However, the liver disease is not always progressive. No treatment apart from liver transplantation has been found to prevent progression of the disease. There is also a neuromuscular form of glycogen storage disease type 4 that varies in onset (perinatal, congenital, juvenile, or adult) and severity.
Mondo Term and Equivalent IDs
MONDO:0009292:  glycogen storage disease due to glycogen branching enzyme deficiency
GARD:0002520: 
NCIT:C84737: 
Orphanet:367: 
SCTID:124267007: 
UMLS:C0017923: 
UMLS:CN204783: