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GENATLAS PHENOTYPE

last update : 10-10-2009

Symbol	GSD3
Location	1p21
Name	glycogen storage disease : type IIIa : hepatomuscular, type IIIb : liver
Corresponding gene	AGL
Other symbol(s)	GDE,GSD3A,GSD3B,AGL
Main clinical features	infancy or chidhood form characterized by hepatomegaly fasting hypoglycemia, growth retardation, associated with an elevation of serum transaminases liver symptoms improving with with age and disappearing after puberty in hepato muscular forms, muscle weakness and wasting become predominant in adult, frequently associated with cardiomyopathy treatment symptomatic for hypoglycemia
Genetic determination	autosomal recessive
Function/system disorder	metabolism/carbohydrates
Type	disease

Gene product

Name	glycogen debranching enzyme (AGL)

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
deletion			changing 17AA at the C terminus and truncation of at last 30AA affecting a considerable number in North African Jewish patients

Remark(s)