Nikolas Boy, Chris Mühlhausen, Esther M Maier, Diana Ballhausen, Matthias R Baumgartner, Skadi Beblo, Peter Burgard, Kimberly A Chapman, Dries Dobbelaere, Jana Heringer-Seifert, Sandra Fleissner, Karina Grohmann-Held, Gabriele Hahn, Inga Harting, Georg F Hoffmann, Frank Jochum, Daniela Karall, Vassiliki Konstantopoulous, Michael B Krawinkel, Martin Lindner, E M Charlotte Märtner, Jean-Marc Nuoffer, Jürgen G Okun, Barbara Plecko, Roland Posset, Katja Sahm, Sabine Scholl-Bürgi, Eva Thimm, Magdalena Walter, Monique Williams, Stephan Vom Dahl, Athanasia Ziagaki, Johannes Zschocke, Stefan Kölker
Glutaric aciduria type 1 is a rare inherited neurometabolic disorder of lysine metabolism caused by pathogenic gene variations in GCDH (cytogenic location: 19p13.13), resulting in deficiency of mitochondrial glutaryl-CoA dehydrogenase (GCDH) and, consequently, accumulation of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutarylcarnitine detectable by gas chromatography/mass spectrometry (organic acids) and tandem mass spectrometry (acylcarnitines). Depending on residual GCDH activity, biochemical high and low excreting phenotypes have been defined...
October 11, 2022: Journal of Inherited Metabolic Disease