Ontology highlight
ABSTRACT:
SUBMITTER: Cozzolino C
PROVIDER: S-EPMC6082241 | biostudies-literature | 2018 Apr./Jun
REPOSITORIES: biostudies-literature
Cozzolino Carla C Villani Guglielmo Rd GR Frisso Giulia G Scolamiero Emanuela E Albano Lucia L Gallo Giovanna G Romanelli Roberta R Ruoppolo Margherita M
Genetics and molecular biology 20180401 2
3-Methylcrotonylglycinuria is an organic aciduria resulting from deficiency of 3-methylcrotonyl-CoA carboxylase (3-MCC), a biotin-dependent mitochondrial enzym carboxylating 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA during leucine catabolism. Its deficiency, due to mutations on MCCC1 and MCCC2 genes, leads to accumulation of 3-methylcrotonyl-CoA metabolites in blood and/or urine, primarily 3-hydroxyisovaleryl-carnitine (C5-OH) in plasma and 3-methylcrotonyl-glycine (3-MCG) and 3-hydroxyisov ...[more]