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Article

Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.

American journal of human genetics - 1 Mar 1995

Michaud J, Thompson G N, Brody L C, Steel G, Obie C, Fontaine G, Schappert K, Keith C G, Valle D, Mitchell G A

Abstract excerpt

We discovered the missense mutation, A226V, in the ornithine-delta-aminotransferase (OAT) genes of two unrelated patients with gyrate atrophy of the choroid and retina (GA). One patient, who was a compound for A226V and for the premature termination allele R398ter, showed a significant (P < .01) decrease in mean plasma ornithine levels, following pyridoxine supplementation with a constant protein intake: 826 +/-...

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Identifiers

PMID: 7887415
PMCID: PMC1801175

Genes

OAT

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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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