CASE OF BIOTIN-RESPONSIVE 3-METHYLCROTONYLGLYCIN AND 3-HYDROXYISOVALERIC ACIDURIA

被引：31

作者：

LEHNERT, W ^{[1
]}

NIEDERHOFF, H ^{[1
]}

JUNKER, A ^{[1
]}

SAULE, H ^{[1
]}

FRASCH, W ^{[1
]}

机构：

[1] KRANKENHAUSZWECKVERBAND AUGSBURG,KINDERKLIN 2,D-8900 AUGSBURG,FED REP GER

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1979年 / 132卷 / 02期

关键词：

3-Methylcrotonyl-CoA carboxylase deficiency; 3-Methylcrotonylglycin- and 3-hydroxyisovaleric aciduria; Biotinresponsive organic aciduria; Convulsions due to metabolic disorders; Organic acidurias;

D O I：

10.1007/BF00447377

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

During selective screening for organic acidurias, a 10-week-old girl with muscular hypotonia and recurrent fits was shown to be excreting 3-methylcrotonylglycin and 3-hydroxyisovaleric acid. Besides these metabolites of leucine the presence of small but pathological amounts of propionic and methylcitric acids were demonstrable in her urine, pointing to a defect in the metabolism of biotin. On treatment with biotin (2×5 mg/day) the convulsions stopped at once, her clinical condition improved gradually, and the abnormal metabolites disappeared from the urine. Within 6 weeks the child was discharged in a good general condition without apparent signs of neurological damage. © 1979 Springer-Verlag.

引用

页码：107 / 114

页数：8

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