Journal article
3-Methylglutaconic aciduria - Lessons from 50 genes and 977 patients
SB Wortmann, LAJ Kluijtmans, RJ Rodenburg, JO Sass, J Nouws, EP Van Kaauwen, T Kleefstra, L Tranebjaerg, MC De Vries, P Isohanni, K Walter, FS Alkuraya, I Smuts, CJ Reinecke, FH Van Der Westhuizen, D Thorburn, JAM Smeitink, E Morava, RA Wevers
Journal of Inherited Metabolic Disease | Published : 2013
Abstract
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 metabolic disorder showing 3-methylglutaconic aciduria in routine metabolic screening. Furthermore, we investigate 591 patients with 50 different, genetically proven, mitochondrial disorders for the presence ..
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