title: The 3-methylglutaconic acidurias: what's new?
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.
authors.affiliation: 833 Nijmegen Centre for Mitochondrial Disorders, Department of Pediatrics, Institute of Genetic and Metabolic Disease (IGMD), Radboud University Nijmegen Medical Centre, P.O Box 9101, 6500 HB Nijmegen, The Netherlands.
authors.forename: Saskia B
authors.initials: SB
authors.lastname: Wortmann
authors.forename: Leo A
authors.initials: LA
authors.lastname: Kluijtmans
authors.forename: Udo F H
authors.initials: UF
authors.lastname: Engelke
authors.forename: Ron A
authors.initials: RA
authors.lastname: Wevers
authors.forename: Eva
authors.initials: E
authors.lastname: Morava
mesh_terms: D035843:Biomedical Research / Q000639:trends; D008401:Gas Chromatography-Mass Spectrometry / Q000379:methods; D005977:Glutarates / Q000652:urine*; D006801:Humans; D009682:Magnetic Resonance Spectroscopy / Q000379:methods; D008661:Metabolism, Inborn Errors / Q000175:diagnosis; D008928:Mitochondria / Q000378:metabolism; D008954:Models, Biological
chemical_list: D005977:Glutarates; C022034:3-methylglutaconic acid