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.
Original language | English (US) |
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Pages (from-to) | 13-22 |
Number of pages | 10 |
Journal | Journal of inherited metabolic disease |
Volume | 35 |
Issue number | 1 |
DOIs | |
State | Published - Jan 2012 |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)