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Article

Fatal initial adult-onset presentation of urea cycle defect.

Archives of neurology - 1 Dec 2007

Lien Jamie, Nyhan William L, Barshop Bruce A

Abstract excerpt

BACKGROUND: Ornithine transcarbamylase (OTC) deficiency presents most commonly with neonatal hyperammonemic coma. The gene is on the X chromosome, but the disease may manifest as a dominant trait. Mutations that lead to later-onset presentations may lead to life-threatening disease and may be unrecognized, particularly when the first clinical disease occurs in adulthood. OBJECTIVE: To document the clinical and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18071043
DOI: 10.1001/archneur.64.12.1777

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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