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Article

Neurological Involvement in Glycogen Storage Disease Type IXa due to PHKA2 Mutation.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques - 1 May 2020

Smith Chelsea, Dicaire Marie-Josée, Brais Bernard, La Piana Roberta

Abstract excerpt

Glycogen storage diseases (GSDs) result from the deficiency of enzymes involved in glycogen synthesis and breakdown into glucose. Mutations in the gene PHKA2 encoding phosphorylase kinase regulatory subunit alpha 2 have been linked to GSD type IXa. We describe a family with two adult brothers with neonatal hepatosplenomegaly and later onset of hearing loss, cognitive impairment, and cerebellar involvement....

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Cerebellar Ataxia
Cognitive Dysfunction
Genetic Diseases, X-Linked
Glycogen Storage Disease
Hearing Loss, Sensorineural

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Peripheral Nervous System Diseases

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PMID: 31987065
DOI: 10.1017/cjn.2020.18

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Neurological Involvement in Glycogen Storage Disease Type IXa due to PHKA2 Mutation.PMID 31987065Read ↗

PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only.Semantic proximity Read ↗

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Glycogen storage disease type IX: High variability in clinical phenotype.Semantic proximity Read ↗

A novel 2.4-kb PHKA2 deletion in a boy with glycogen storage disease type IXa.Semantic proximity Read ↗

Identification of a novel mutation in the PHKA2 gene in a child with liver cirrhosis.Semantic proximity Read ↗

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Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.Semantic proximity Read ↗

A novel frameshift PHKA2 mutation in a family with glycogen storage disease type IXa: A first report in Vietnam and review of literature.Semantic proximity Read ↗

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PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations.Semantic proximity Read ↗

PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature.Semantic proximity Read ↗

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