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OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients.

Pediatric neurology - 1 Sept 2014

Lee Jung Hyun, Kim Gu-Hwan, Yoo Han-Wook, Cheon Chong-Kun

Abstract excerpt

BACKGROUND: Ornithine transcarbamylase deficiency, an inborn error of metabolism, is the most common urea cycle disorder and is caused by mutations in the OTC gene located on Xp21. In this study, the clinical and genetic characteristics of seven Korean patients with ornithine transcarbamylase deficiency were analyzed. METHODS: During 2009-2012, a total of seven patients (three male and four female patients) from...

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PMID: 25011434
DOI: 10.1016/j.pediatrneurol.2014.03.029

Genes

OTC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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