Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria.
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.
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
Khue Vu
KV
Nguyen
Robert K
RK
Naviaux
Satyajit
S
Patra
Bruce A
BA
Barshop
William L
WL
Nyhan
D000595:Amino Acid Sequence; D019735:Carbon-Carbon Ligases / Q000737:chemistry / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007963:Leukocytes, Mononuclear / Q000201:enzymology; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D016415:Sequence Alignment; D056806:Urea Cycle Disorders, Inborn
D019735:Carbon-Carbon Ligases; C021573:methylcrotonoyl-CoA carboxylase