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

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 ge...

Descripción completa

Detalles Bibliográficos
Autores principales: Chan, Toby Chun Hei, Cheung, Hoi Ning, Chow, Jasmine, Leung, Mei Tik, Chen, Sammy Pak Lam, Shek, Chi Chung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9474907/
https://www.ncbi.nlm.nih.gov/pubmed/36177076
http://dx.doi.org/10.1002/ccr3.6347

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9474907/
https://www.ncbi.nlm.nih.gov/pubmed/36177076
http://dx.doi.org/10.1002/ccr3.6347

Ejemplares similares