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

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...

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Bibliographic Details
Main Authors: Toby Chun Hei Chan, Hoi Ning Cheung, Jasmine Chow, Mei Tik Leung, Sammy Pak Lam Chen, Chi Chung Shek
Format: Article
Language:English
Published: Wiley 2022-09-01
Series:Clinical Case Reports
Subjects:
genetic mosaicism
hyperammonemia
inborn errors of metabolism
ornithine transcarbamylase deficiency
Online Access:https://doi.org/10.1002/ccr3.6347

Internet

https://doi.org/10.1002/ccr3.6347

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