The 3-methylglutaconic acidurias: what's new?
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.
Wortmann
Saskia B
SB
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.
Kluijtmans
Leo A
LA
Engelke
Udo F H
UF
Wevers
Ron A
RA
Morava
Eva
E
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
D005977:Glutarates; C022034:3-methylglutaconic acid