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Article

Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene.

Human genetics - 1 Dec 1991

Hentzen D, Pelet A, Feldman D, Rabier D, Berthelot J, Munnich A

Abstract excerpt

Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of the urea cycle in humans and is 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. The cosegregation of the trait with a 5.8-kb abnormal MspI fragment in an affected family led us to hypothesize that...

Topics

Amino Acid Metabolism, Inborn Errors
Ammonia
Base Sequence
Blotting, Southern
Codon
Deoxyribonuclease HpaII
Deoxyribonucleases, Type II Site-Specific
Female
Genetic Carrier Screening
Genetic Linkage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Markers

Humans

Infant, Newborn

Male

Molecular Sequence Data

Mutation

Ornithine Carbamoyltransferase

Ornithine Carbamoyltransferase Deficiency Disease

Source

Identifiers

PMID: 1721894
DOI: 10.1007/BF00206063

Genes

OTC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1721894-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene.PMID 1721894Read ↗

A novel mutation of the ornithine transcarbamylase gene leading to fatal hyperammonemia in a liver transplant recipient.Semantic proximity Read ↗

A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency.Semantic proximity Read ↗

A Novel Two–Nucleotide Deletion in the Ornithine Transcarbamylase Gene Causing Fatal Hyperammonia in Early PregnancySemantic proximity Read ↗

Four new mutations in the ornithine transcarbamylase gene.Semantic proximity Read ↗

The R40H mutation in a late onset type of human ornithine transcarbamylase deficiency in male patients.Semantic proximity Read ↗

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

Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene.Semantic proximity Read ↗

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

Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy maleSemantic proximity Read ↗

Site specific screening for point mutations in ornithine transcarbamylase deficiency.Semantic proximity Read ↗

Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families.Semantic proximity Read ↗

Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: a hypothesis on the molecular mechanism of the OTC deficiency.Semantic proximity Read ↗

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