This pathway shows an simplified version of the Krebs cycle (for more details see [https://www.wikipathways.org/index.php/Pathway:WP78] ), with 4 genetic diseases related to it. For succinyl-CoA synthetase deficiencies, relevant metabolic markers are depicted in light green. Patients with a mutation in the SUCLG1 might present a severe (fatal) form of mitochondrial encephalomyopathy. This pathway was inspired by Chapter 20 of the book of Blau (ISBN 3642403360 (978-3642403361)). a65 a07 Nucleoside diphosphate kinase AKA LDH lactate dehydrogenase AKA pyruvate dehydrogenase AKA Mitochondrial pyruvate transport AKA alanine aminotransferase SCS (succinyl-CoA syntethase) For more info see: https://en.wikipedia.org/wiki/Succinyl_coenzyme_A_synthetase AKA phosphoenolpyruvate carboxykinase AKA lactate dehydrogenase C; expressed in testes. SCS (succinyl-CoA syntethase) For more info see: https://en.wikipedia.org/wiki/Succinyl_coenzyme_A_synthetase Fumarate hydratase Composed of 3 subunits "Homodimer. The 2-oxoglutarate dehydrogenase (ODH) complex contains multiple copies of three enzymatic components: 2-oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3) (By similarity)." [https://www.uniprot.org/uniprot/Q1B4V6] Not in original drawing, adapted from https://www.wikipathways.org/index.php/Pathway:WP78 Not in original drawing, adapted from https://www.wikipathways.org/index.php/Pathway:WP78 a.k.a. 2-methylcitric acid a.k.a. 2-methylcitric acid Succinate-CoA ligase alpha-subunit SCS (succinyl-CoA syntethase) For more info see: https://en.wikipedia.org/wiki/Succinyl_coenzyme_A_synthetase Succinate-CoA ligase alpha-subunit SCS (succinyl-CoA syntethase) For more info see: https://en.wikipedia.org/wiki/Succinyl_coenzyme_A_synthetase SCS (succinyl-CoA syntethase) For more info see: https://en.wikipedia.org/wiki/Succinyl_coenzyme_A_synthetase Succinate-CoA ligase alpha-subunit Nucleoside diphosphate kinase SCS (succinyl-CoA syntethase) For more info see: https://en.wikipedia.org/wiki/Succinyl_coenzyme_A_synthetase Nucleoside diphosphate kinase AKA LDH-1 lactate dehydrogenase 1, 4H; expressed in heart, red blood cells (RBC), brain) AKA LDH-2 lactate dehydrogenase 2 (3H1M); expressed in reticuloendohelial system AKA LDH-3 lactate dehydrogenase 3 (2H2M); expressed in lungs AKA LDH-4 lactate dehydrogenase 4 (1H3M); expressed in kidneys, placenta, pancreas. AKA LDH-5 lactate dehydrogenase 5 (4M); expressed in liver, striated muscle, brain. AKA alanine aminotransferase d18 ba2 d18 ba2 e84 d18 ba2 a07 a07 e84 d18 ba2 e84 d18 ba2 d18 ba2 a07 a07 eb2 a07 a07 "[...]In most patient, the E2 subunit could be responsible for the "classic metabolic" presentation of 2-oxoglutaric aciduria" [Chapter 20, book of Blau] Clinically recognisable form of: deafness, onycho-osteodystrophy, thumbs and sensorineural deafness, is related to defect of E1 subunit. Encephalopathic form is related to E2 subunit deficiency DISEASE DISEASE DISEASE DISEASE DISEASE DISEASE methylmalonic acidemia DOID:14749 Disease 1653609 PubMed Apparent ATP-linked succinate thiokinase activity and its relation to nucleoside diphosphate kinase in mitochondrial matrix preparations from rabbit. Biochim Biophys Acta 1991 Kadrmas EF Ray PD Lambeth DO 25748677 PubMed Mitochondrial pyruvate transport: a historical perspective and future research directions Biochem J. 2015 Kyle S McCommis Brian N Finck citric acid cycle pathway PW:0000026 Pathway Ontology 8016083 PubMed Characterization of nucleoside-diphosphate kinase from Pseudomonas aeruginosa: complex formation with succinyl-CoA synthetase. Proc Natl Acad Sci U S A 1994 Kavanaugh-Black A Connolly DM Chugani SA Chakrabarty AM 11831846 PubMed Localization and characterization of the mitochondrial isoform of the nucleoside diphosphate kinase in the pancreatic beta cell: evidence for its complexation with mitochondrial succinyl-CoA synthetase. Arch Biochem Biophys 2002 Kowluru A Tannous M Chen HQ 24363178 PubMed Disorders of the Pyruvate Metabolism and the Krebs Cycle Cell Mol Life Sci . 2014 Lawrence R Gray Sean C Tompkins Eric B Taylor 9783642403361 ISBN Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases Springer-Verlag Berlin Heidelberg 2014 Nenad Blau Marinus Duran K Michael Gibson Carlo Dionisi-Vici. mitochondrial encephalomyopathy DOID:890 Disease fumaric aciduria pathway PW:0002098 Pathway Ontology