Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs
FA Beemer, K Bartlett, M Duran, HK Ghneim… - European Journal of …, 1982 - Springer
FA Beemer, K Bartlett, M Duran, HK Ghneim, SK Wadman, L Bruinvis, D Ketting
European Journal of Pediatrics, 1982•SpringerTwo 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.
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.
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.
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