鸟氨酸酮酸转氨酶缺乏与视网膜脉络膜回旋性萎缩
Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina.
作者信息
Shih V E, Berson E L, Mandell R, Schmidt S Y
出版信息
Am J Hum Genet. 1978 Mar;30(2):174-9.
Abstract
Gyrate atrophy of the choroid and retina is a chorioretinal degeneration associated with hyperornithinemia with an autosomal recessive mode of inheritance. Cultured skin fibroblasts from five affected patients showed a virtual absence of ornithine ketoacid transaminase (OKT) (L-ornithine:2-oxoacid aminotransferase E.C.2.6.1.13) activity. Fibroblasts from four carrier parents showed a 42%-65% reduction in OKT activity. Increasing the concentration of pyridoxal phosphate (vitamin B6 in the assay media resulted in partial restoration of OKT activity in fibroblasts from one out of five patients studied. We conclude that OKT deficiency is closely associated with the genetic defect in gyrate atrophy of the choroid and retina and that genetic heterogeneity exists in this disease.
摘要
脉络膜视网膜回旋性萎缩是一种与高鸟氨酸血症相关的脉络膜视网膜变性，呈常染色体隐性遗传模式。五名患病患者的培养皮肤成纤维细胞显示几乎没有鸟氨酸酮酸转氨酶（OKT）（L-鸟氨酸：2-氧代酸氨基转移酶，E.C.2.6.1.13）活性。四名携带者父母的成纤维细胞显示OKT活性降低了42%-65%。在所研究的五名患者中，有一名患者的成纤维细胞中，增加测定培养基中磷酸吡哆醛（维生素B6）的浓度可使OKT活性部分恢复。我们得出结论，OKT缺乏与脉络膜视网膜回旋性萎缩的基因缺陷密切相关，且该疾病存在基因异质性。
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