Glycogen storage disease IXa2
MONDO:0100439Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK in liver, but normal activity in erythrocytes.
Also known as: GSD IXa2, GSD9A2, liver glycogenosis, X-linked, type 2
3 clinical trials for this condition and its sub-types.
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Disease
(680)
Metabolic disease
(233)
Hereditary disease
(176)
Inborn errors of metabolism
(45)
Disorder of glycogen metabolism
(14)
Human disease
(14)
Carbohydrate metabolism disease
(3)
Disease of genetic or genomic mechanism
(2)
Glycogen storage disease IX
(2)
Inborn carbohydrate metabolic disorder
(2)