Wortmann, Saskia B.; Kluijtmans, Leo A. J.; Rodenburg, Richard J.; Sass, Jörn Oliver; Nouws, Jessica; Van Kaauwen, Edwin P.; Kleefstra, Tjitske; Tranebjaerg, Lisbeth; De Vries, Maaike C.; Isohanni, Pirjo; Walter, Katharina; Alkuraya, Fowzan S.; Smuts, Izelle; Reinecke, Carolus J.; Van der Westhuizen, Francois Hendrikus; Thorburn, David; Smeitink, Jan A.M.; Morava, Eva; Wevers, Ron A.
(Springer, 2013-11)
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. ...
