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Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency

✍ Scribed by C. Steen; E. R. Baumgartner; M. Duran; W. Lehnert; T. Suormala; R. Fingerhut; M. Stehn; A. Kohlschütter


Publisher
Springer
Year
1999
Tongue
English
Weight
167 KB
Volume
158
Category
Article
ISSN
0340-6997

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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