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Article

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

American journal of medical genetics. Part A - 1 Oct 2021

Benner Anne, Alhaidan Yazeid, Lines Matthew A, Brusgaard Klaus, De Leon Diva D, Sparkes Rebecca, Frederiksen Anja L, Christesen Henrik T

Abstract excerpt

Idiopathic ketotic hypoglycemia (IKH) is a diagnosis of exclusion with glycogen storage diseases (GSDs) as a differential diagnosis. GSD IXa presents with ketotic hypoglycemia (KH), hepatomegaly, and growth retardation due to PHKA2 variants. In our multicenter study, 12 children from eight families were diagnosed or suspected of IKH. Whole-exome sequencing or targeted next-generation sequencing panels were...

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Diagnosis, Differential
Exome Sequencing
Glycogen Storage Disease
Hepatomegaly
High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

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Identifiers

PMID: 34117828
DOI: 10.1002/ajmg.a.62383
PMCID: PMC8518678

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PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only.PMID 34117828Read ↗

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