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- W3092720061 abstract "Gyrate Atrophy (GA) of the choroid and retina (MIM# 258870) is an autosomal recessive disorder due to mutations of the OAT gene encoding ornithine-delta-aminotransferase (OAT), associated with progressive retinal deterioration and blindness. The disease has a theoretical global incidence of approximately 1:1,500,000. OAT is mainly involved in ornithine catabolism in adults, thus explaining the hyperornithinemia as hallmark of the disease. Patients are treated with an arginine-restricted diet, to limit ornithine load, or the administration of Vitamin B6, a precursor of the OAT coenzyme pyridoxal phosphate. Although the clinical and genetic aspects of GA are known for many years, the enzymatic phenotype of pathogenic variants and their response to Vitamin B6, as well as the molecular mechanisms explaining retinal damage, are poorly clarified. Herein, we provide an overview of the current knowledge on the biochemical properties of human OAT and on the molecular, cellular, and clinical aspects of GA." @default.
- W3092720061 created "2020-10-22" @default.
- W3092720061 creator A5001163784 @default.
- W3092720061 creator A5004246592 @default.
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- W3092720061 creator A5055726399 @default.
- W3092720061 creator A5080516141 @default.
- W3092720061 creator A5084985417 @default.
- W3092720061 date "2021-01-01" @default.
- W3092720061 modified "2023-10-17" @default.
- W3092720061 title "Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects" @default.
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