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Article

Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency.

Human genetics - 1 Jan 1990

Pelet A, Rotig A, Bonaïti-Pellié C, Rabier D, Cormier V, Toumas E, Hentzen D, Saudubray J M, Munnich A

Abstract excerpt

Ornithine transcarbamylase (OTC) deficiency is an X-linked disease responsible for lethal neonatal hyperammonemia in males. Partial OTC deficiency also occurs in females and can be responsible for life-threatening hyperammonemic comas in heterozygotes (15%). Increased orotic acid excretion occurs in both symptomatic and asymptomatic carriers, especially under protein loading tests. The disease is therefore...

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Source

Identifiers

PMID: 2298453
DOI: 10.1007/BF00208934

Genes

OTC

Provenance

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.

Related research

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Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency.PMID 2298453Read ↗

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Direct and indirect mutation analyses in patients with ornithine transcarbamylase deficiency.Semantic proximity Read ↗

Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.Semantic proximity Read ↗

The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency.Semantic proximity Read ↗

The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.Semantic proximity Read ↗

Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia.Semantic proximity Read ↗

Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.Semantic proximity Read ↗

How reliable is the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency?Semantic proximity Read ↗

The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency.Semantic proximity Read ↗

Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome.Semantic proximity Read ↗

Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family.Semantic proximity Read ↗

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