3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal.
3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal.
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3-甲基戊二酸尿症：3-甲基戊二酸辅酶 A 水合酶活性正常的表型。
DOI：
10.1007/bf00441821
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发表时间：
1988
影响因子：
3.6
通讯作者：
vanSprang,FJ
中科院分区：
文献类型：
--
作者：
Gibson,KM;Nyhan,WL;Sweetman,L;Narisawa,K;Lehnert,W;Divry,P;Robinson,BH;Roth,KS;Beemer,FA;vanSprang,FJ
3-已发现甲基戊烯二酸尿症有两种不同的综合征。其中一种是3-甲基戊烯二酰辅酶A水合酶活性不足，观察到的唯一临床表现是语言发育迟缓。在另一个，其中包括大多数患者的研究，我们的文件，这种酶在成纤维细胞提取物的活性是正常的。这种疾病的表型是一种严重的神经功能障碍，伴有精神发育迟缓、低渗和/或痉挛、惊厥或EEG异常，以及眼和耳的感觉神经变化。
3-Methylglutaconic aciduria has been found in two distinct syndromes. In one there is deficient activity of 3-methylglutaconyl coenzyme A hydratase, and the only clinical manifestation observed has been retardation of speech development. In the other, which includes a majority of the patients studied, we document that the activity of this enzyme in fibroblast extracts is normal. The phenotype of this disorder is one of profound neurological impairment with retarded psychomotor development, hypotonicity and/or spasticity, convulsions or EEG abnormalities, and sensorineural changes in the eye and ear.