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)).e43AKA trans-4-carboxybut-2-enoyl-CoAAKA 2-ketoglutarate, 2-oxoglutarate, 2-oxopentanedioic acid, α-ketoglutarateAka ACY1AKA (E)-but-2-enoyl-CoAReaction 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]ac8Reaction not part of Rhea [2022-11-04]Rhea ID based on alternative name overal for crotonyl CoAReaction not part of Rhea [2022-11-04]dc4b39c4da07d04ecac79dc4b397564239PubMedEarly signs and course of disease of glutaryl-CoA dehydrogenase deficiency.J Inherit Metab Dis1995Hoffmann GFBöhles HJBurlina ADuran MHerwig JLehnert WLeonard JVMuntau APlecko-Starting FKSuperti-Furga Aglutaric aciduria type I pathwayPW:0002306Pathway Ontology19524112PubMedEvidence for mitochondrial and cytoplasmic N-acetylaspartate synthesis in SH-SY5Y neuroblastoma cells.Neurochem Int2009Arun PMoffett JRNamboodiri AMorganic acidemiaDOID:0060159Disease14239091PubMedSPONGY DEGENERATION OF THE CENTRAL NERVOUS SYSTEM IN INFANCY.Neurology1964BANKER BQROBERTSON JTVICTOR M2-hydroxyglutaric aciduriaDOID:0050573DiseaseCanavan diseaseDOID:3613Diseasedisease pathwayPW:0000013Pathway Ontology3769199PubMedN-acetylaspartic aciduria in a child with a progressive cerebral atrophy.Clin Chim Acta1986Kvittingen EAGuldal GBørsting SSkalpe IOStokke OJellum E6774165PubMedD-2-hydroxyglutaric aciduria: case report and biochemical studies.J Inherit Metab Dis1980Chalmers RALawson AMWatts RWTavill ASKamerling JPHey EOgilvie DD-2-hydroxyglutaric aciduriaDOID:0050575Disease20847235PubMedIDH2 mutations in patients with D-2-hydroxyglutaric aciduria.Science2010Kranendijk MStruys EAvan Schaftingen EGibson KMKanhai WAvan der Knaap MSAmiel JBuist NRDas AMde Klerk JBFeigenbaum ASGrange DKHofstede FCHolme EKirk EPKorman SHMorava EMorris ASmeitink JSukhai RNVallance HJakobs CSalomons GS16602100PubMedGlutaric acidemia type 1.Am J Med Genet C Semin Med Genet2006Hedlund GLLongo NPasquali M16005139PubMedThe gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase.Biochimie2006Rzem RVan Schaftingen EVeiga-da-Cunha M9783642403361ISBNPhysician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic DiseasesISBN 978-3-642-40337-82014BlauNenadDuranMarinusgibsonK.MichaelDionisi-ViciCarlolysine degradation pathwayPW:0000073Pathway Ontology