Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria.
Khue Vu Nguyen, Robert K Naviaux, Satyajit Patra, Bruce A Barshop, William L Nyhan
Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California San Diego, La Jolla, CA 92093, USA. kvn006@ucsd.edu
Molecular genetics and metabolism 2011 FebMethylcrotonylglycinuria (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
Mesh Tags
Substances
PMID: 21071250
View Full Text
