枫糖尿症：用氨基酸和酮酸测定成纤维细胞中的支链酮酸脱羧作用。
Maple syrup urine disease: branched-chain keto acid decarboxylation in fibroblasts as measured with amino acids and keto acids.
作者信息
Dancis J, Hutzler J, Cox R P
出版信息
Am J Hum Genet. 1977 May;29(3):272-9.
Abstract
Branched-chain keto acid decarboxylase activity in skin fibroblasts from control subjects and from patients with classical and variant forms of maple syrup urine disease (MSUD) was measured with leucine and alpha-ketoisocaproic acid. When the keto acid was used as substrate in high concentrations (more than 5 mM), the three groups overlapped extensively, even classical cases of MSUD exhibiting decarboxylase activity. With leucine as substrate, decarboxylase activity plateaued at about 1.5 mM, and the three groups could be clearly differentiated. Classical cases of MSUD had minimal or no decarboxylase activity.
摘要
使用亮氨酸和α-酮异己酸测定了对照受试者以及患有经典型和变异型枫糖尿症（MSUD）患者皮肤成纤维细胞中的支链酮酸脱羧酶活性。当高浓度（超过5 mM）使用酮酸作为底物时，三组有广泛重叠，甚至经典型MSUD病例也表现出脱羧酶活性。以亮氨酸作为底物时，脱羧酶活性在约1.5 mM时达到平台期，并且三组可以明显区分。经典型MSUD病例的脱羧酶活性极低或无活性。
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Rapid diagnosis of maple syrup urine disease (branched chain ketoaciduria) by micro-enzyme assay in leukocytes and fibroblasts.通过白细胞和成纤维细胞中的微酶分析法快速诊断枫糖尿症（支链酮酸尿症）
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