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Article

Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation.

Journal of inherited metabolic disease - 1 Jan 2005

Cleary M A, Dorland L, de Koning T J, Poll-The B T, Duran M, Mandell R, Shih V E, Berger R, Olpin S E, Besley G T N

Abstract excerpt

We describe two unrelated cases of ornithine aminotransferase (OAT) deficiency with rare neonatal presentation of hyperammonaemia. The diagnosis in the neonatal presentation of OAT deficiency is hampered as hyperornithinaemia is absent. Enzyme and mutation studies confirmed the diagnosis. OAT deficiency should be included in differential diagnosis of neonatal hyperammonaemia.

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16151897
DOI: 10.1007/s10545-005-0074-1

Genes

OAT

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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