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GENATLAS PHENOTYPE
last update : 08-09-2011
Symbol GSD9A
Location Xp22.13
Name glycogen storage disease, type IX A
Corresponding gene PHKA2
Main clinical features
  • liver glycogenosis, combinations of hypoglycaemia, hepatosplenomegaly, short stature, hepatopathy, weakness, fatigue and motor delay
  • biochemical findings included elevated lactate, urate and lipids
  • broad spectrum of phenotypic variability
  • Genetic determination sex linked
    Function/system disorder metabolism/carbohydrates
    Type disease
    Remark(s)
  • PHKA2 missense mutations or small in-frame deletions/insertions may have a direct impact on the PhK alpha functions (PMID: 18950708))