Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs
- 1 July 1982
- journal article
- research article
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 138 (4) , 351-354
- https://doi.org/10.1007/bf00442517
Abstract
Two Vietnamese siblings with an isolated deficiency of 3-methylcrotonyl coenzyme A carboxylase in leucocytes and culture fibroblasts are described. Both children excreted massive amounts of 3-methylcrotonylglycine and 3-hydroxyisovaleric acid. There was no in vivo or in vitro biochemical response to biotin. Apart from an attack of vomitting leading to subcoma in the elder sib four weeks after arrival in the Netherlands, the children were in good health. There were no signs of delayed mental development.This publication has 18 references indexed in Scilit:
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