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Article

Ornithine transcarbamoylase deficiency presenting with acute liver failure.

Journal of inherited metabolic disease - 1 Aug 2006

Mustafa Ahlam, Clarke Joe T R

Abstract excerpt

Ornithine transcarbamoylase (OTC) deficiency is the most common hereditary urea cycle disorder. It is an X-linked recessive disorder that usually presents with encephalopathy and hyperammonaemia. We report a 14-month-old female carrier of OTC deficiency, who presented with a history of intermitte...

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Share to Diet, Protein-Restricted
Share to Heterozygote
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Liver Failure, Acute

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Share to Ornithine Carbamoyltransferase

Share to Ornithine Carbamoyltransferase Deficiency Disease

Source

Identifiers

PMID: 16802108
DOI: 10.1007/s10545-006-0303-2

Genes

OTC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16802108-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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