Article
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I.
Human mutation - 1 Apr 2003
Ly T B Nga, Peters Verena, Gibson K Michael, Liesert Michael, Buckel Wolfgang, Wilcken Bridget, Carpenter Kevin, Ensenauer Regina, Hoffmann Georg F, Mack Matthias, Zschocke Johannes
Abstract excerpt
The conversion of 3-methylglutaconyl-CoA to 3-hydroxy-3-methylglutaryl-CoA is the only step in leucine catametabolism yet to be characterized at enzyme and DNA levels. The deficiency of the putative mitochondrial enzyme 3-methylglutaconyl-CoA hydratase associates with the rare organic aciduria 3-methylglutaconic aciduria type I (MGA1), but neither the enzyme nor its gene have been described in any organism. Here...
Topics
- Amino Acid Metabolism, Inborn Errors
- Carnitine
- Child, Preschool
- Exons
- Genes, Recessive
- Glutarates
- Humans
- Hydro-Lyases
- Infant, Newborn
- Intellectual Disability
- Language Development Disorders
- Male
- Mutation
- Neonatal Screening