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Article

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non-Finnish Patients.

American journal of medical genetics. Part A - 1 Jun 2026

Bernhardt Isaac, Stabej Polona Le Quesne, Hart Claire, De Hora Mark, Hulley Sarah, Anderson Mark, Leitch Harry G, Lemonde Hugh, Ryder Bryony, Davison James

Abstract excerpt

Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK-C) is an essential, rate-limiting enzyme in the gluconeogenesis pathway. PEPCK-C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi-allelic PCK1 variants in 2014. A Finnish cohort with a common homozygous variant (c.925G>A, p.(Gly309Arg)) is well-described, but few other genotypes are reported....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41549939
DOI: 10.1002/ajmga.70063

Genes

PCK1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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