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GENATLAS PHENOTYPE
last update : 20-03-2009
Symbol GSD6B
Location Xp22.13
Name glycogen storage disease, type VI/VIIIa
Other name(s) hepatic phosphorylase kinase deficiency
Corresponding gene PHKA2
Other symbol(s) PHK, PYK, XLG, GSD8A, XLG
Main clinical features
  • hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis and with age, these clinical and biochemicalabnormalities gradually disappear and most adult patients are asymptomatic
    • Genetic determination sex linked
    Related entries . including cases with a clearcut deficiency in liver and blood (XLGI) or normal or residual (XLGII) activity)
    Function/system disorder metabolism/carbohydrates
    Type disease
    Gene product
    Name phosphorylase kinase, alpha 2, liver (PHKA2)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   truncated protein truncating or disrupted mutation (XLG1)
    missense     missense mutations or small in frame deletions and insertion (XLG2)
    Remark(s)