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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
Related
methylglutaconyl-CoA hydratase, mitochondrial; AU-specific RNA-binding enoyl-CoA hydratase; AU-binding protein/enoyl-CoA hydratase (AUH)
General
amino acid inborn error of metabolism
References
OMIM :accession 250950