Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

3-Methylglutaconic Aciduria

  • Gesmar Rodrigues Silva SegundoEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_140-1

Introduction

3-methylglutaconic aciduria (3-MGA-uria) is a nonspecific biochemical finding related with a group of inborn errors of metabolism, particularly mitochondrial disorders. 3-MGA is a branched-chain organic acid and intermediate of leucine degradation and the mevalonate shunt pathway. The clinical features of the 3-MGA-uria syndromes are varied and are classified into five types, each with substantial heterogeneity. In all types, with the exception of 3-MGA-uria type I, the activities of 3-methylglutaconyl-CoA hydratase and other enzymes of leucine degradation are normal, and the 3-MGA-uria is considered secondary to defects in phospholipid remodeling or integrity of mitochondrial membranes, leading to electron transport chain dysfunction. 3-MGA-uria type I is an inborn error of leucine metabolism, caused by variants in AUH. AUHencodes 3-methylglutaconyl-CoA hydratase, which catalyzes the fifth step of leucine catabolism, whereby 3-methylglutaconyl-CoA is converted to...

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References

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Copyright information

© Springer Science+Business Media LLC 2018

Authors and Affiliations

  1. 1.Pediatrics Allergy and ImmunologyUniversidade Federal de UberlandiaUberlandiaBrazil

Section editors and affiliations

  • Antonio Condino-Neto
    • 1
  1. 1.Institute of Biomedical SciencesUniversity of São PauloSão PauloBrazil