Glycogen storage disease due to liver phosphorylase kinase deficiency

rare

A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.

Identifiers: MONDO:0020693 Orphanet:264580
Part of: Disorder of glycogen metabolism Liver disorder

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Glycogen storage disease IXa1	MONDO:0010598		PHKA2
Glycogen storage disease IXc	MONDO:0013091		PHKG2

Rare disease

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