Author(s): Rolfs, Prof. Arndt, MD, Vieira, Päivi, Cameron, Jessie, PhD, Rahikkala, Elisa, PhD, MD, Zhang, Lin-Hua, PhD, Santra, Saikat, Matthews, Allison, PhD, Myllynen, Päivi, PhD, MD, Nuutinen, Matti, PhD, MD, Moilanen, Jukka, PhD, MD, Rodenburg, Richard, PhD, Uusimaa, Johanna, PhD, MD, van Karnebeek, Clara D.M., PhD, MD
A novel homozygous PCK1 mutation was detected in all in this study affected individuals. Whole exome sequencing was performed. Read more!
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 PCK1 c.925GNA (p.G309R) mutation was detected in all affected individuals.
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