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.