伴有赖氨酸-酮戊二酸还原酶功能不全的家族性高赖氨酸血症
Familial hyperlysinemia with lysine-ketoglutarate reductase insufficiency.
作者信息
Dancis J, Hutzler J, Cox R P, Woody N C
出版信息
J Clin Invest. 1969 Aug;48(8):1447-52. doi: 10.1172/JCI106110.
Abstract
Fibroblasts grown in tissue culture from the skin of normal subjects have lysine-ketoglutarate reductase activity (lysine: alpha-ketoglutarate: triphosphopyridine nucleotide (TPNH) oxidoreductase (epsilon-N-[L-glutaryl-2]-L-lysine forming)). The activity of the enzyme is considerably reduced in the skin fibroblasts grown from three siblings with hyperlysinemia. The high concentrations of lysine in the blood of these patients, the previous demonstration in the intact subject of a reduction in the ability to degrade lysine, and the present demonstration of diminished lysine-ketoglutarate reductase activity, accurately define the metabolic defect and establish the saccharopine (epsilon-N-[L-glutaryl-2]-L-lysine) pathway as the major degradative pathway for lysine in the human.
摘要
从正常受试者皮肤在组织培养中生长的成纤维细胞具有赖氨酸 - 酮戊二酸还原酶活性（赖氨酸：α - 酮戊二酸：三磷酸吡啶核苷酸（TPNH）氧化还原酶（形成ε - N - [L - 谷氨酰 - 2] - L - 赖氨酸））。在患有高赖氨酸血症的三个兄弟姐妹所生长的皮肤成纤维细胞中，该酶的活性显著降低。这些患者血液中赖氨酸的高浓度、先前在完整受试者中证明的赖氨酸降解能力降低以及目前证明的赖氨酸 - 酮戊二酸还原酶活性降低，准确地界定了代谢缺陷，并确立了saccharopine（ε - N - [L - 谷氨酰 - 2] - L - 赖氨酸）途径作为人类赖氨酸的主要降解途径。
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Saccharopine, a product of lysine breakdown by mammalian liver.酵母氨酸，一种哺乳动物肝脏中赖氨酸分解的产物。
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Hyperlysinemia associated with retardation.与智力发育迟缓相关的高赖氨酸血症。
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