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Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 16-month-old child

✍ Scribed by M. O. Rolland; P. Divry; M. T. Zabot; P. Guibaud; S. Gomez; A. Lachaux; I. Loras


Book ID
112630990
Publisher
Springer
Year
1991
Tongue
English
Weight
161 KB
Volume
14
Category
Article
ISSN
0141-8955

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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