Female heterozygotes for the hypomorphic R40H mutation can have ornithine transcarbamylase deficiency and present in early adolescence: a case report and review of the literature

INTRODUCTION: Ornithine transcarbamylase deficiency is the most common hereditary urea cycle defect. It is inherited in an X-linked manner and classically presents in neonates with encephalopathy and hyperammonemia in males. Females and males with hypomorphic mutations present later, sometimes in ad...

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Detalles Bibliográficos
Autores principales: Pinner, Jason R, Freckmann, Mary-Louise, Kirk, Edwin P, Yoshino, Makoto
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2997096/
https://www.ncbi.nlm.nih.gov/pubmed/21070677
http://dx.doi.org/10.1186/1752-1947-4-361

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2997096/
https://www.ncbi.nlm.nih.gov/pubmed/21070677
http://dx.doi.org/10.1186/1752-1947-4-361

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