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 journalArticle

42 Scopus citations

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'The 3-methylglutaconic acidurias: What's new?'. Together they form a unique fingerprint.

  • Cite this

    Wortmann, S. B., Kluijtmans, L. A., Engelke, U. F. H., Wevers, R. A., & Morava, E. (2012). The 3-methylglutaconic acidurias: What's new? Journal of inherited metabolic disease, 35(1), 13-22. https://doi.org/10.1007/s10545-010-9210-7