Ontology highlight
ABSTRACT:
SUBMITTER: IJlst L
PROVIDER: S-EPMC378594 | biostudies-literature | 2002 Dec
REPOSITORIES: biostudies-literature
IJlst Lodewijk L Loupatty Ference J FJ Ruiter Jos P N JP Duran Marinus M Lehnert Willy W Wanders Ronald J A RJ
American journal of human genetics 20021114 6
3-Methylglutaconic aciduria type I is an autosomal recessive disorder clinically characterized by various symptoms ranging from delayed speech development to severe neurological handicap. This disorder is caused by a deficiency of 3-methylglutaconyl-CoA hydratase, one of the key enzymes of leucine degradation. This results in elevated urinary levels of 3-methylglutaconic acid, 3-methylglutaric acid, and 3-hydroxyisovaleric acid. By heterologous expression in Escherichia coli, we show that 3-meth ...[more]