The 3-methylglutaconic acidurias: What's new?

Saskia B. Wortmann, Leo A. Kluijtmans, Udo F.H. Engelke, Ron A. Wevers, Eva Morava

Research output: Contribution to journalArticlepeer-review

47 Scopus citations


The heterogeneous group of 3-methylglutaconic aciduria (3-MGA-uria) syndromes includes several inborn errors of metabolism biochemically characterized by increased urinary excretion of 3-methylglutaconic acid. Five distinct types have been recognized: 3-methylglutaconic aciduria type I is an inborn error of leucine catabolism; the additional four types all affect mitochondrial function through different pathomechanisms. We provide an overview of the expanding clinical spectrum of the 3-MGA-uria types and provide the newest insights into the underlying pathomechanisms. A diagnostic approach to the patient with 3-MGA-uria is presented, and we search for the connection between urinary 3-MGA excretion and mitochondrial dysfunction.

Original languageEnglish (US)
Pages (from-to)13-22
Number of pages10
JournalJournal of inherited metabolic disease
Issue number1
StatePublished - Jan 2012

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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