3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients

  title={3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients},
  author={Saskia B Wortmann and Leo A. J. Kluijtmans and Richard J T Rodenburg and J{\"o}rn Oliver Sass and Jessica Nouws and Edwin P. M. van Kaauwen and Tjitske Kleefstra and Lisbeth Tranebjaerg and Maaike C. de Vries and Pirjo Isohanni and Katharina Walter and Fowzan S Alkuraya and Izelle Smuts and Carolus J. Reinecke and Francois Hendrikus van der Westhuizen and David R Thorburn and Jan A M Smeitink and Eva Morava and Ron A Wevers},
  journal={Journal of Inherited Metabolic Disease},
Elevated urinary excretion of 3-methylglutaconic acid is considered rare in patients suspected of a metabolic disorder. In 3-methylglutaconyl-CoA hydratase deficiency (mutations in AUH), it derives from leucine degradation. In all other disorders with 3-methylglutaconic aciduria the origin is unknown, yet mitochondrial dysfunction is thought to be the common denominator. We investigate the biochemical, clinical and genetic data of 388 patients referred to our centre under suspicion of a… CONTINUE READING


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