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
oleh: Toby Chun Hei Chan, Hoi Ning Cheung, Jasmine Chow, Mei Tik Leung, Sammy Pak Lam Chen, Chi Chung Shek
| Format: | Article |
|---|---|
| Diterbitkan: | Wiley 2022-09-01 |
Deskripsi
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.