A1 Vertaisarvioitu alkuperäisartikkeli tieteellisessä lehdessä
Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings
Tekijät: 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
Kustantaja: WILEY
Julkaisuvuosi: 2022
Journal: Journal of Inherited Metabolic Disease
Tietokannassa oleva lehden nimi: JOURNAL OF INHERITED METABOLIC DISEASE
Lehden akronyymi: J INHERIT METAB DIS
Vuosikerta: 45
Numero: 2
Aloitussivu: 223
Lopetussivu: 234
Sivujen määrä: 12
ISSN: 0141-8955
eISSN: 1573-2665
DOI: https://doi.org/10.1002/jimd.12446
Verkko-osoite: https://doi.org/10.1002/jimd.12446
Rinnakkaistallenteen osoite: https://oulurepo.oulu.fi/bitstream/handle/10024/32289/nbnfi-fe2021113057914.pdf
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 collected. All patients were ethnic Finns. Most patients (22 out of 24) had a previously published homozygous PCK1 variant c.925G>A. Two patients had a novel compound heterozygous PCK1 variant c.925G>A and c.716C>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 1-2 years, but it sometimes presented at a later age, and could re-occur during school age or adulthood. This study adds to the laboratory data on PEPCK-C 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.
