Hyperammonemic Encephalopathy in an Adolescent Patient of Citrullinemia Type 1 With an Atypical Presentation

Citrullinemia refers to a family of autosomal recessive disorders involving the urea cycle. Three forms exist, which have different implications. Type I citrullinemia exists in both mild and severe forms. It arises due to mutations with argininosuccinate synthase leading to accumulation of ammonia a...

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Detalles Bibliográficos
Autores principales: Ruxmohan, Samir, Quinonez, Jonathan, Choudhari, Jinal, Poudel, Sujan, Pandav, Krunal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8212435/
https://www.ncbi.nlm.nih.gov/pubmed/34159013
http://dx.doi.org/10.7759/cureus.15109

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8212435/
https://www.ncbi.nlm.nih.gov/pubmed/34159013
http://dx.doi.org/10.7759/cureus.15109

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