The 3-methylglutaconic acidurias: What's new?

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

Research output: Contribution to journalArticle

39 Citations (Scopus)

Abstract

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
Volume35
Issue number1
DOIs
StatePublished - Jan 1 2012
Externally publishedYes

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Inborn Errors Metabolism
Leucine
3-Methylglutaconic Aciduria
glycyrrhetyl 3-monoglucuronide
Type I 3-Methylglutaconic Aciduria
3-methylglutaconic acid

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

The 3-methylglutaconic acidurias : What's new? / Wortmann, Saskia B.; Kluijtmans, Leo A.; Engelke, Udo F H; Wevers, Ron A.; Morava-Kozicz, Eva.

In: Journal of Inherited Metabolic Disease, Vol. 35, No. 1, 01.01.2012, p. 13-22.

Research output: Contribution to journalArticle

Wortmann, Saskia B. ; Kluijtmans, Leo A. ; Engelke, Udo F H ; Wevers, Ron A. ; Morava-Kozicz, Eva. / The 3-methylglutaconic acidurias : What's new?. In: Journal of Inherited Metabolic Disease. 2012 ; Vol. 35, No. 1. pp. 13-22.
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