Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review.

ABSTRACT: Ornithine transcarbamylase deficiency (OTCD) is an X-linked disorder. Several male patients with OTCD suffer from severe hyperammonemic crisis in the neonatal period, whereas others develop late-onset manifestations, including hyperammonemic coma. Females with heterozygous pathogenic variants in the OTC gene may develop a variety of clinical manifestations, ranging from asymptomatic conditions to severe hyperammonemic attacks, owing to skewed lyonization. We reported the variants of CPS1, ASS, ASL and OTC detected in the patients with urea cycle disorders through a nation-wide survey in Japan. In this study, we updated the variant data of OTC in Japanese patients and acquired information regarding genetic variants of OTC from patients with O

SUBMITTER: Kido J 

PROVIDER: S-EPMC9593096 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature