3-methylglutaconic aciduria, type ivOMIM Phenotype
Preferred Label : 3-methylglutaconic aciduria, type iv;
Symbol : MGCA4;
CISMeF acronym : MGA4; MGCA4;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : MGA4; Mga, type iv;
Description : The category of 3-methylglutaconic aciduria type IV (MGCA4) represents a heterogeneous
unclassified group of patients who share mild or intermittent urinary excretion of
3-methylglutaconic acid. MGCA excretion is a nonspecific finding observed in many
other disorders caused by defects in mitochondrial energy metabolism (Gunay-Aygun,
2005). For a general phenotypic description and a discussion of genetic heterogeneity
of 3-methylglutaconic aciduria, see MGCA1 (250950);