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Article

An OTC deficiency 'phenocopy' in association with Klinefelter syndrome.

Journal of inherited metabolic disease - 1 Feb 2007

Swarts L, Leisegang F, Owen E P, Henderson H E

Abstract excerpt

Late-onset urea cycle disorder in a 20-month-old boy is unusually associated with Klinefelter syndrome with a 47XXY karyotype. We record the typical clinical and biochemical findings of ornithine transcarbamylase (OTC) deficiency in a young boy with a short history of recurrent vomiting, self mutilating behaviour, lethargy, ataxia and seizures. Laboratory studies showed hyperammonaemia and orotic aciduria, with...

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Share to Chromosomes, Human, X
Share to DNA Mutational Analysis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Karyotyping

Share to Klinefelter Syndrome

Share to Ornithine Carbamoyltransferase

Share to Ornithine Carbamoyltransferase Deficiency Disease

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Source

Identifiers

PMID: 17186414
DOI: 10.1007/s10545-006-0489-3

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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An OTC deficiency 'phenocopy' in association with Klinefelter syndrome.PMID 17186414Read ↗

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