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

doi:10.1016/j.ymgme.2010.10.008

Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria

Mol Genet Metab. 2011 Feb;102(2):218-21. doi: 10.1016/j.ymgme.2010.10.008. Epub 2010 Oct 20.

Authors

Khue Vu Nguyen¹, Robert K Naviaux, Satyajit Patra, Bruce A Barshop, William L Nyhan

Affiliation

¹ 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

PMID: 21071250
DOI: 10.1016/j.ymgme.2010.10.008

Abstract

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.

MeSH terms

Amino Acid Sequence
Carbon-Carbon Ligases / chemistry
Carbon-Carbon Ligases / deficiency
Carbon-Carbon Ligases / genetics*
Carbon-Carbon Ligases / metabolism
Humans
Leukocytes, Mononuclear / enzymology
Metabolism, Inborn Errors / diagnosis*
Metabolism, Inborn Errors / genetics*
Molecular Sequence Data
Mutation*
Sequence Alignment
Urea Cycle Disorders, Inborn

Substances

Carbon-Carbon Ligases
methylcrotonoyl-CoA carboxylase

Supplementary concepts

3-methylcrotonyl CoA carboxylase 1 deficiency