3-Methylcrotonyl-CoA carboxylase deficie
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Maria Fernanda Dantas; Terttu Suormala; Ann Randolph; David Coelho; Brian Fowler
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Article
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2005
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John Wiley and Sons
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English
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Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder that appears to be the most frequent organic aciduria detected in tandem mass spectrometry (TMS)-based neonatal screening programs. The phenotype is variable, ranging from neonatal onset with severe neurolo