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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))