The 3-methylglutaconic acidurias: what's new?

J Inherit Metab Dis. 2012 Jan;35(1):13-22. doi: 10.1007/s10545-010-9210-7. Epub 2010 Sep 30.


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.

Publication types

  • Review

MeSH terms

  • Biomedical Research / trends
  • Gas Chromatography-Mass Spectrometry / methods
  • Glutarates / urine*
  • Humans
  • Magnetic Resonance Spectroscopy / methods
  • Metabolism, Inborn Errors / diagnosis
  • Mitochondria / metabolism
  • Models, Biological


  • Glutarates
  • 3-methylglutaconic acid