Article
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.
Pediatric research - 1 Jun 2006
Kölker Stefan, Garbade Sven F, Greenberg Cheryl R, Leonard James V, Saudubray Jean-Marie, Ribes Antonia, Kalkanoglu H Serap, Lund Allan M, Merinero Begoña, Wajner Moacir, Troncoso Mónica, Williams Monique, Walter John H, Campistol Jaume, Martí-Herrero Milagros, Caswill Melissa, Burlina Alberto B, Lagler Florian, Maier Esther M, Schwahn Bernd, Tokatli Aysegul, Dursun Ali, Coskun Turgay, Chalmers Ronald A, Koeller David M, Zschocke Johannes, Christensen Ernst, Burgard Peter, Hoffmann Georg F
Abstract excerpt
Glutaryl-CoA dehydrogenase (GCDH) deficiency is a rare inborn disorder of L-lysine, L-hydroxylysine, and L-tryptophan metabolism complicated by striatal damage during acute encephalopathic crises. Three decades after its description, the natural history and how to treat this disorder are still incompletely understood. To study which variables influenced the outcome, we conducted an international cross-sectional...
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