Glycogen storage disease IXb
MONDO:0009868A disorder of glycogen metabolism caused by a deficiency in liver and muscle phosphorylase kinase subunit b, is autosomal recessive and can lead to hepatomegaly, hypoglycemia after prolonged fasting, and growth retardation.
Also known as: GSD IXb, GSD due to liver and muscle phosphorylase kinase deficiency, GSD type 9B, GSD type IXb, GSD9B, PHKB glycogen storage disease, PHKB-related glycogen storage disease type IX, glycogen storage disease 9B
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)