methylglutaconyl-CoA hydratase deficiency; methylglutaconic aciduria

Genetics

• caused by mutations in the AUH gene

Clinical manifestations

• choreoathetosis
• spastic paraparesis
• dementia
• optic atrophy

Laboratory

• urinalysis:
  • increased amounts of urine 3-methylglutaric acid & urine 3-methylglutaconic acid

More general terms

• amino acid inborn error of metabolism

Additional terms

• methylglutaconyl-CoA hydratase, mitochondrial; AU-specific RNA-binding enoyl-CoA hydratase; AU-binding protein/enoyl-CoA hydratase (AUH)