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.

脉络膜和视网膜的陀螺萎缩（GAM）（MIM＃258870）是由于OAT突变而引起的常染色体隐性遗传疾病鸟氨酸-δ-氨基转移酶（OAT）的基因编码，与进行性视网膜退化和失明有关。该疾病的理论全球发病率约为1：1,500,000。OAT主要参与成年人的鸟氨酸分解代谢，因此可以解释高鸟氨酸血症是该疾病的标志。限制精氨酸饮食以限制鸟氨酸负荷，或服用OAT辅酶吡pyr醛磷酸盐的前体维生素B6来治疗患者。尽管GA的临床和遗传方面已为人所知，但致病性变体的酶学表型及其对维生素B6的反应以及解释视网膜损伤的分子机制却知之甚少。在此，我们概述了有关人类OAT的生化特性和分子的最新知识，