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Article

Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.

Journal of genetics and genomics = Yi chuan xue bao - 20 May 2015

Caldovic Ljubica, Abdikarim Iman, Narain Sahas, Tuchman Mendel, Morizono Hiroki

Abstract excerpt

Ornithine transcarbamylase (OTC) deficiency is an X-linked trait that accounts for nearly half of all inherited disorders of the urea cycle. OTC is one of the enzymes common to both the urea cycle and the bacterial arginine biosynthesis pathway; however, the role of OTC has changed over evolution. For animals with a urea cycle, defects in OTC can trigger hyperammonemic episodes that can lead to brain damage and...

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Share to OTC gene
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ornithine Carbamoyltransferase

Share to Ornithine Carbamoyltransferase Deficiency Disease

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Share to Polymorphism, Genetic

Source

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Identifiers

PMID: 26059767
DOI: 10.1016/j.jgg.2015.04.003
PMCID: PMC4565140

Genes

OTC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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