Article
Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.
Molecular genetics and metabolism - 1 Apr 2017
Vieira Päivi, Cameron Jessie, Rahikkala Elisa, Keski-Filppula Riikka, Zhang Lin-Hua, Santra Saikat, Matthews Allison, Myllynen Päivi, Nuutinen Matti, Moilanen Jukka S, Rodenburg Richard J, Rolfs Arndt, Uusimaa Johanna, van Karnebeek Clara D M
Abstract excerpt
Clinical and laboratory data were collected from three Finnish patients including a sibling pair and another unrelated child with unexplained childhood hypoglycemia. Transient elevation of alanine transaminase, lactate and tricarboxylic acid cycle intermediates, especially fumarate, were noticed in urine organic acid analysis. Exome sequencing was performed for the patients and their parents. A novel homozygous...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.