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Article

Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism.

The FEBS journal - 1 May 2006

Mack Matthias, Schniegler-Mattox Ute, Peters Verena, Hoffmann Georg F, Liesert Michael, Buckel Wolfgang, Zschocke Johannes

Abstract excerpt

The metabolic disease 3-methylglutaconic aciduria type I (MGA1) is characterized by an abnormal organic acid profile in which there is excessive urinary excretion of 3-methylglutaconic acid, 3-methylglutaric acid and 3-hydroxyisovaleric acid. Affected individuals display variable clinical manifestations ranging from mildly delayed speech development to severe psychomotor retardation with neurological handicap....

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Source

Identifiers

PMID: 16640564
DOI: 10.1111/j.1742-4658.2006.05218.x

Genes

AUH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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