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3-methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father.
Eur J Pediatr
December 2000
Beatrix Children's Hospital, University Hospital Groningen, The Netherlands.
Unlabelled: Three affected members of one family, each with a different clinical presentation of isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase (MCC) deficiency are described. The index patient presented at 7 weeks of age with feeding difficulties, sweating and tachypnoea. Echocardiography showed a severely dilated left ventricle with minimal contractility.
View Article and Find Full Text PDFTwo siblings with biotin-resistant 3-methylcrotonyl-coenzyme A carboxylase deficiency.
J Pediatr
July 1989
Department of Laboratory Medicine, University of Minnesota, Minneapolis.
Two Vietnamese siblings with an isolated deficiency of 3-methylcrotonyl coenzyme A carboxylase in leucocytes and cultured 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.
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