Organic aciduria in neonatal multiple carboxylase deficiency.
Organic aciduria in neonatal multiple carboxylase deficiency.
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新生儿多种羧化酶缺乏症的有机酸尿。
DOI：
10.1007/bf01799754
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发表时间：
1982
影响因子：
4.2
通讯作者：
Kaye,R
中科院分区：
文献类型：
--
作者：
Sweetman,L;Nyhan,WL;Sakati,NA;Ohlsson,A;Mange,MS;Boychuk,RB;Kaye,R
一名萨摩亚病人和一名沙特阿拉伯病人被发现有3-甲基丁基糖尿、丙酸血症和乳酸酸中毒特征的有机酸代谢物模式异常。两名患者都很早就去世了。代谢模式是多种羧化酶缺乏症的诊断，酶的诊断是在第一个病人的后续受影响的兄弟姐妹。这三种羧化酶的缺乏表明生物素代谢的主要缺陷，这是它们的活性所必需的。这种致命疾病很容易用生物素治疗，这一事实突出了认识临床情况的重要性。这些患者有明显的皮肤病变，可作为诊断的警示信号。
A Samoan patient and a Saudi-Arabian patient were found to have abnormalities in the pattern of organic acid metabolites characteristic of 3-methylcrotonylglycinuria, propionic acidaemia and lactic acidosis. Both patients died early in life. The metabolic pattern is diagnostic of multiple carboxylase deficiency and an enzymatic diagnosis was made in a subsequent affected sibling of the first patient. Deficiency of the three carboxylases suggests a primary defect in the metabolism of biotin which is required for their activity. The importance of the recognition of the clinical picture is highlighted by the fact that this lethal disease is readily treated with biotin. These patients have prominent skin lesions which can serve as alerting signs for the diagnosis.