• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.1
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• pp.10-17
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• 2016

The 3-methylglutaconic aciduria (3-MGA-uria) is a heterogeneous group of several inborn errors of metabolism characterized by increased urinary excretion of 3-methylglutaconic acid. In most cases, 3-MGA is only slightly increased and combined with other metabolites. However, repeated and significant excretion of 3-MGA (40->1,000 mmol/mol creatinine) is a hallmark of the disorders of 3-MGA-urias. There have identified five distinct types of disorders: inborn errors of leucine metabolism and four disorders of mitochondrial dysfunction through different mechanism. The range of clinical and biochemical findings in this condition is variable. In the patients with 3-methylglutaconyl-CoA hydratase deficiency, increased 3-hydroxyisovaleric acid is useful in the differential diagnosis. Other forms of 3-MGA-urias are welldefined clinically such as Barth syndrome, Costeff syndrome, TMEM 70 defect, MEGDEL syndrome, and DCMA syndrome. We provide an overview of the expanding clinical spectrum and differential diagnosis of the 3-MGA-urias.