Home Page
References OMIM Gene GeneReviews HGMD HGNC
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)
    Gene mutationChromosome rearrangementEffectComments
    deletion     changing 17AA at the C terminus and truncation of at last 30AA affecting a considerable number in North African Jewish patients