Hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene from her asymptomatic father-A peculiar pattern of X-linked recessive inheritance.

Abstract

A three-year-old Chinese girl presented with hyperammonemia was diagnosed biochemically and genetically (heterozygous for a novel likely pathogenic missense variant c.476T>A) as having ornithine transcarbamylase (OTC) deficiency, a rare X-linked recessive urea cycle disorders. Extensive family genetic screening eventually revealed paternal gonadosomatic mosaicism.

• Authors: Toby Chun Hei Chan, Hoi Ning Cheung, Jasmine Chow, Mei Tik Leung, Sammy Pak Lam Chen, Chi Chung Shek
• Journal: Clinical case reports (Clin Case Rep) Vol. 10 Issue 9 Pg. e6347 (Sep 2022) ISSN: 2050-0904 [Print] England
• PMID: 36177076 (Publication Type: Case Reports)
• Copyright: © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.