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Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye syndrome-like illness

โœ Scribed by E. M. Layward; M. S. Tanner; R. J. Pollitt; K. Bartlett


Publisher
Springer
Year
1989
Tongue
English
Weight
170 KB
Volume
12
Category
Article
ISSN
0141-8955

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Isolated biotin-resistant 3-methylcroton
โœ F. A. Beemer; K. Bartlett; M. Duran; H. K. Ghneim; S. K. Wadman; L. Bruinvis; D. ๐Ÿ“‚ Article ๐Ÿ“… 1982 ๐Ÿ› Springer ๐ŸŒ English โš– 476 KB

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 t