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3-Methylglutaconic aciduria type I is caused by mutations in AUH.

ABSTRACT: 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-methylglutaconyl-CoA hydratase is encoded by the AUH gene, whose product had been reported elsewhere as an AU-specific RNA-binding protein. Mutation analysis of AUH in two patients revealed a nonsense mutation (R197X) and a splice-site mutation (IVS8-1G-->A), demonstrating that mutations in AUH cause 3-methylglutaconic aciduria type I.

SUBMITTER: IJlst L

PROVIDER: S-EPMC378594 | biostudies-literature | 2002 Dec

REPOSITORIES: biostudies-literature

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3-Methylglutaconic aciduria type I is caused by mutations in AUH.

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]

PMID: 12434311

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