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Article

Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D.

The Tohoku journal of experimental medicine - 1 Apr 2005

Ohkubo Yumiko, Ueta Akihito, Ito Tetsuya, Sumi Satoshi, Yamada Mari, Ozawa Katsuko, Togari Hajime

Abstract excerpt

Ornithine aminotransferase (OAT) deficiency (MIM: 258870) is a rare congenital metabolic disorder characterized by gyrate atrophy of the choroid and retina. Here, we report a 37-year-old male with gyrate atrophy of the choroid and retina who has been treated for 18 years. At the age of 7 years, the patient consulted an ophthalmologist due to progressive loss of vision. A large atrophied area was observed in his...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15750329
DOI: 10.1620/tjem.205.335

Genes

OAT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D.PMID 15750329Read ↗

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Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophySemantic proximity Read ↗

Gyrate atrophy of the choroid and retina diagnosed by ornithine-δ-aminotransferase gene analysis: a case report.Semantic proximity Read ↗

Multimodal imaging and genetic screening in Mexican patients with Gyrate atrophy: identification of novel OAT pathogenic variants.Semantic proximity Read ↗

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Mild Phenotypes of Gyrate Atrophy in a Carrier with One Variant Allele of <em>OAT</em>Semantic proximity Read ↗

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