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Methylcrotonylglycinuria (MCG) is an inborn error of leucine catabolism and has a recessive pattern of inheritance that results from the deficiency of 3-methylcrotonyl-CoA carboxylase (MCC). The clinical phenotypes are highly variable ranging from neonatal onset with severe neurological involvement to asymptomatic adults. Here we identified two novel MCCA (exon 3: c.137G>A; p.46G>E), (IVS7-1G>A splice site mutation), and four novel MCCB (exon 11: c.1065A>T; p.355L>F), (exon 15: c.1430A>G; p.477Q>R), (exon 16: c.1549G>A; p.517G>R), (exon 16: c.1559A>C; p.520Y>S) mutant alleles from five MCC-deficient patients. Published by Elsevier Inc.

Citation

Khue Vu Nguyen, Robert K Naviaux, Satyajit Patra, Bruce A Barshop, William L Nyhan. Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. Molecular genetics and metabolism. 2011 Feb;102(2):218-21

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PMID: 21071250

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