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GENATLAS PHENOTYPE
last update : 6/07/2006
Symbol GSD4
Location 3p12
Name glycogen storage disease, type IV
Other name(s)
  • Andersen disease . amylopectinosis
    • Corresponding gene GBE1
    Other symbol(s) GBE, APBD, GBE1
    Main clinical features
  • hepatic and neuromuscular forms, slowly progressive disorder of the nervous system, accumulation of glycogen with fewer branching points and long, unbranched outer chains with a variable phenotype, including musculoskeletal, cardiac, neurological, and hepatic involvement, and classic form with a hepatic presentation, which presents in the first 18 months of life with failure to thrive, hepatomegaly, and cirrhosis that progresses to liver failure, resulting in death by age 5 years
    • Genetic determination autosomal recessive
    Related entries including adult polyglucosan body disease (APBD)
    Function/system disorder metabolism/carbohydrates
    Type disease
    Gene product
    Name glycogen branching enzyme (GBE1)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   truncated protein in fatal neonatal form
    Genotype/Phenotype correlations
  • missense mutations with amino acid changes in the GBE gene (Q236H and R262C), may account for a mild phenotype . nonsense mutation, c.1643G > A, cause premature termination of translation, generating truncated 548-amino acid peptide, associated to lethal neonatal disease