Newborn ornithine carbamyltransferase deficiency caused by new OTC gene mutations: a report of two cases and review of the literature on phenotype and genotype

BACKGROUND: Ornithine carbamyltransferase deficiency (OTCD) is the most common urea cycle disorder disease. Neonatal-type cases usually involve a serious condition, including the complete loss of ornithine carbamyltransferase (OTC) enzyme activities. CASE DESCRIPTION: Case 1: A 3-day-old boy was hos...

Descripción completa

Detalles Bibliográficos
Autores principales: Yu, Aizhen, Gao, Di, Zeng, Senyan, Huang, Lingzhu, Jiang, Fuman, Feng, Xue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10644015/
https://www.ncbi.nlm.nih.gov/pubmed/37969118
http://dx.doi.org/10.21037/tp-23-437

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10644015/
https://www.ncbi.nlm.nih.gov/pubmed/37969118
http://dx.doi.org/10.21037/tp-23-437

Ejemplares similares