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Article

Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.

European journal of pediatrics - 1 May 2014

Albash Buthainah, Imtiaz Faiqa, Al-Zaidan Hamad, Al-Manea Hadeel, Banemai Mohammed, Allam R, Al-Suheel Ali, Al-Owain Mohammed

Abstract excerpt

Glycogen storage disease type IX (GSD IX) is a common form of glycogenosis due to mutations in PHKA1, PHKA2, or PHKB and PHKG2 genes resulting in the deficiency of phosphorylase kinase. The first two genes are X-linked while the latter two follow an autosomal recessive inheritance. The majority of cases of GSD IX are attributed to defects in PHKA2 which usually cause a mild disease. We report three patients with...

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Source

Identifiers

PMID: 24326380
DOI: 10.1007/s00431-013-2223-0

Genes

PHKG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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