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Article

Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings.

Journal of inherited metabolic disease - 1 Mar 2022

Vieira Päivi, Nagy Irina I, Rahikkala Elisa, Väisänen Marja-Leena, Latva Katariina, Kaunisto Kari, Valmari Pekka, Keski-Filppula Riikka, Haanpää Maria K, Sidoroff Virpi, Miettinen Päivi J, Arkkola Tuula, Ojaniemi Marja, Nuutinen Matti, Uusimaa Johanna, Myllynen Päivi

Abstract excerpt

Cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) deficiency due to the homozygous PCK1 variant has recently been associated with childhood-onset hypoglycemia with a recognizable pattern of abnormal urine organic acids. In this study, 21 children and 3 adult patients with genetically confirmed PEPCK-C deficiency were diagnosed during the years 2016 to 2019 and the available biochemical and clinical data were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34622459
DOI: 10.1002/jimd.12446

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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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