Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Molecular genetics and metabolism - 1 Jan 2000

Balfoort Berith M, Pampalone Gioena, Ruiter Jos P N, Denis Simone W, Brands Marion M, Timmer Corrie, Wagenmakers Margreet A E M, Wanders Ronald J A, van Karnebeek Clara D, Cellini Barbara, Houtkooper Riekelt H, Ferdinandusse Sacha

Abstract excerpt

Gyrate atrophy of the choroid and retina (GACR) is caused by pathogenic biallelic variants in the gene encoding ornithine-δ-aminotransferase (OAT), and is characterized by progressive vision loss leading to blindness. OAT is a pyridoxal-5'-phosphate (PLP) dependent enzyme that is mainly involved in ornithine catabolism, and patients with a deficiency develop profound hyperornithinemia. Therapy is aimed at...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Ornithine

Share to Pyridoxal Phosphate

Share to Pyridoxine

Source

Identifiers

PMID: 39053126
DOI: 10.1016/j.ymgme.2024.108542

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay.PMID 39053126Read ↗

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

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

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

A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR).Semantic proximity Read ↗

Genotype-phenotype correlation of a pyridoxine-responsive form of gyrate atrophy.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 ↗

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

Multimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy.Semantic proximity Read ↗

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

Finnish gyrate atrophy mutation OAT;c.1205C>T leads to accumulation of intracellular GABASemantic proximity Read ↗

Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.