This pathway shows disorders related to the accumulation of organic acids in body fluids, resulting in cerebral organic acidurias. Symptoms often include mental or motor retardation, difficulties while moving and epilepsy. For all but one disorder, current treatment options have been proven ineffective. Disorders resulting from an enzyme defect are highlighted in pink. This pathway was inspired by Chapter 8 of the book of Blau (ISBN 3642403360 (978-3642403361)). e43 AKA trans-4-carboxybut-2-enoyl-CoA AKA 2-ketoglutarate, 2-oxoglutarate, 2-oxopentanedioic acid, α-ketoglutarate Aka ACY1 AKA (E)-but-2-enoyl-CoA Reaction not part of Rhea [2022-11-04] Reaction not part of Rhea [2022-11-04] Reaction not part of Rhea [2022-11-04] Reaction not part of Rhea [2022-11-04] Reaction not part of Rhea [2022-11-04] ac8 Reaction not part of Rhea [2022-11-04] Rhea ID based on alternative name overal for crotonyl CoA Reaction not part of Rhea [2022-11-04] dc4 b39 c4d a07 d04 eca c79 dc4 b39 lysine degradation pathway PW:0000073 Pathway Ontology 2-hydroxyglutaric aciduria DOID:0050573 Disease 7564239 PubMed Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 1995 Hoffmann GF Böhles HJ Burlina A Duran M Herwig J Lehnert W Leonard JV Muntau A Plecko-Starting FK Superti-Furga A 16602100 PubMed Glutaric acidemia type 1. Am J Med Genet C Semin Med Genet 2006 Hedlund GL Longo N Pasquali M organic acidemia DOID:0060159 Disease 6774165 PubMed D-2-hydroxyglutaric aciduria: case report and biochemical studies. J Inherit Metab Dis 1980 Chalmers RA Lawson AM Watts RW Tavill AS Kamerling JP Hey E Ogilvie D 20847235 PubMed IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science 2010 Kranendijk M Struys EA van Schaftingen E Gibson KM Kanhai WA van der Knaap MS Amiel J Buist NR Das AM de Klerk JB Feigenbaum AS Grange DK Hofstede FC Holme E Kirk EP Korman SH Morava E Morris A Smeitink J Sukhai RN Vallance H Jakobs C Salomons GS 19524112 PubMed Evidence for mitochondrial and cytoplasmic N-acetylaspartate synthesis in SH-SY5Y neuroblastoma cells. Neurochem Int 2009 Arun P Moffett JR Namboodiri AM Canavan disease DOID:3613 Disease glutaric aciduria type I pathway PW:0002306 Pathway Ontology disease pathway PW:0000013 Pathway Ontology D-2-hydroxyglutaric aciduria DOID:0050575 Disease 14239091 PubMed SPONGY DEGENERATION OF THE CENTRAL NERVOUS SYSTEM IN INFANCY. Neurology 1964 BANKER BQ ROBERTSON JT VICTOR M 16005139 PubMed The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase. Biochimie 2006 Rzem R Van Schaftingen E Veiga-da-Cunha M 3769199 PubMed N-acetylaspartic aciduria in a child with a progressive cerebral atrophy. Clin Chim Acta 1986 Kvittingen EA Guldal G Børsting S Skalpe IO Stokke O Jellum E 9783642403361 ISBN Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases ISBN 978-3-642-40337-8 2014 Blau Nenad Duran Marinus gibson K.Michael Dionisi-Vici Carlo