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Article

Gyrate atrophy of the choroid and retina: lymphocyte ornithine-delta-aminotransferase activity in different mutations and carriers.

Pediatric research - 1 Sept 1998

Heinänen K, Näntö-Salonen K, Leino L, Pulkki K, Heinonen O, Valle D, Simell O

Abstract excerpt

Deficiency of omithine-delta-aminotransferase (OAT) causes gyrate atrophy of the choroid and retina with hyperornithinemia (GA; McKusick 258870), a progressive autosomal recessive chorioretinal degeneration leading to early blindness. As residual enzyme activity may vary in different mutations of the OAT gene and explain individual variations in disease progression, a sensitive HPLC modification of the OAT assay...

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Source

Identifiers

PMID: 9727717
DOI: 10.1203/00006450-199809000-00019

Genes

OAT

Variants

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.

Related research

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Research trail→

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Gyrate atrophy of the choroid and retina: lymphocyte ornithine-delta-aminotransferase activity in different mutations and carriers.PMID 9727717Read ↗

Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects.Semantic proximity Read ↗

Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay.Semantic proximity Read ↗

First report of c.425-1G>A mutation in ornithine aminotransferase gene causing gyrate atrophy of the choroid and retina with hyperornithinemia.Semantic proximity Read ↗

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

Ophthalmologic heterogeneity in subjects with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferase.Semantic proximity Read ↗

Heterogeneity and uniqueness of ornithine aminotransferase mutations found in Japanese gyrate atrophy patients.Semantic proximity Read ↗

Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene.Semantic proximity Read ↗

Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D.Semantic proximity Read ↗

Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.Semantic proximity Read ↗

Gyrate atrophy-like phenotype with normal plasma ornithine.Semantic proximity Read ↗

Current Insight into Human Ornithine Aminotransferase: A Review.Semantic proximity Read ↗

Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.Semantic proximity Read ↗

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