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Article

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

American journal of human genetics - 1 Dec 2002

IJlst Lodewijk, Loupatty Ference J, Ruiter Jos P N, Duran Marinus, Lehnert Willy, Wanders Ronald J A

Abstract excerpt

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...

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Identifiers

PMID: 12434311
DOI: 10.1086/344712
PMCID: PMC378594

Genes

AUH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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