Deficient beta-ketothiolase activity in leukocytes from a patient with 2-methylacetoacetic aciduria.
Deficient beta-ketothiolase activity in leukocytes from a patient with 2-methylacetoacetic aciduria.
复制标题
2-甲基乙酰乙酸尿症患者白细胞中 β-酮硫解酶活性不足。
DOI：
10.1016/0009-8981(86)90283-4
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发表时间：
1986
期刊：
影响因子：
--
通讯作者：
T. Kuhara
中科院分区：
文献类型：
--
作者：
K. Hiyama;N. Sakura;T. Matsumoto;T. Kuhara
简介β-酮醇酶（&KT）缺乏症是一种遗传性的异亮氨酸分解代谢障碍，其特征是排泄2-甲基-3-羟基丁酸、2-甲基乙酰乙酸和虎苷酸。自1971年Daum等人[l]描述了1例出现重度酸中毒和昏迷发作的患者以来，已报告了18例患者（12个家族）12-121。β-KT缺乏症的诊断是通过气相色谱和质谱（GC/MS）鉴定患者排出的特征性尿有机酸进行化学诊断，但GC/MS仅给出"化学诊断“。罗宾逊等人首先描述了用培养的成纤维细胞直接酶促证实j3-KT缺乏[6]。然而，用于成纤维细胞培养的皮肤活检是一种侵入性程序，并且成纤维细胞培养耗时且昂贵。当父母或患者拒绝皮肤活检时，直接的酶诊断将是不可能的。建立一种利用外周血细胞进行快速酶学诊断的方法是十分必要的。我们描述了一个病例的化学诊断CC/MS和外周血单个核细胞（MNC）和多形核细胞（PMNC）的直接酶测定证实。
Introduction beta-Ketot~ olase (&KT) deficiency is an inherited metabolic disorder of isoleucine catabolism characterized by the excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid and tiglylglycine. Since 1971, when Daum et al [l] described a patient who presented with episodes of severe acidosis and coma, 18 patients (12 families) have been reported 12-121. The diagnosis of/3-KT deficiency is made chemically by gas chromatography and mass spectrometric (GC/MS) identification of the characteristic urinary organic acids excreted by patients, but GC/MS gives only ‘a chemical diagnosis’. Direct enzymatic confirmation of j3-KT deficiency with cultured fibroblasts was first described by Robinson et al [6]. However, skin biopsy for fibroblast culture is an invasive procedure and fibroblast culture is time-consuming and expensive. When parents or a patient refuse skin biopsy, direct enzymatic diagnosis will be impossibte. It is desirable to establish an assay using peripheral blood cells for the rapid enzymological diagnosis. We describe a case diagnosed chemically by CC/MS and confirmed by direct enzyme assay of peripheral mononuclear cells (MNC) and polymorphonuclear cells (PMNC).