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In this study, 21 children and 3 adult patients with genetically confirmed PEPCK\u2010C deficiency were diagnosed during the years 2016 to 2019 and the available biochemical and clinical data were collected. All patients were ethnic Finns. Most patients (22 out of 24) had a previously published homozygous <jats:italic>PCK1<\/jats:italic> variant c.925G&gt;A. Two patients had a novel compound heterozygous <jats:italic>PCK1<\/jats:italic> variant c.925G&gt;A and c.716C&gt;T. The laboratory results showed abnormal urine organic acid profile with increased tricarboxylic acid cycle intermediates and inadequate ketone body production during hypoglycemia. The hypoglycemic episodes manifested predominantly in the morning. Infections, fasting or poor food intake, heavy exercise, alcohol consumption, and breastfeeding were identified as triggering factors. Five patients presented with neonatal hypoglycemia. Hypoglycemic seizures occurred in half of the patients (12 out of 24). The first hypoglycemic episode often occurred at the age of 1\u20102\u2009years, but it sometimes presented at a later age, and could re\u2010occur during school age or adulthood. This study adds to the laboratory data on PEPCK\u2010C deficiency, confirming the recognizable urine organic acid pattern and identifying deficient ketogenesis as a novel laboratory finding. The phenotype is expanded suggesting that the risk of hypoglycemia may continue into adulthood if predisposing factors are present.<\/jats:p>","DOI":"10.1002\/jimd.12446","type":"journal-article","created":{"date-parts":[[2021,10,10]],"date-time":"2021-10-10T04:19:34Z","timestamp":1633839574000},"page":"223-234","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings"],"prefix":"10.1002","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0796-8706","authenticated-orcid":false,"given":"P\u00e4ivi","family":"Vieira","sequence":"first","affiliation":[{"name":"Clinic for Children and Adolescents, Oulu University Hospital  Oulu Finland"},{"name":"PEDEGO Research Unit and Medical Research Center, Oulu University Hospital and University of Oulu  Oulu 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