An important cofactor for carboxylation reaction is the vitamin Biotin. Four carboxylase groups (ACC, MCC, PCC and PC) are activated by binding to biotin and forming holocarboxylases, which in turn are responsible for several metabolic conversion in the Fatty Acid Synthesis, Leucine catabolism, propanoate metabolism and gluconeogenesis. Except for the ACC conversion from acetyl-CoA to malonyl-CoA starting the fatty acid synthesis, all other three interactions are connected to disorders. Furthermore, one can distinguish two "multiple carboxylase defects" (MCDs), which are connected to the conversion of biocytin into biotin (BTD), or unbound biotin to one of the apocarboxylases (HCSD).
This pathway was inspired by Chapter 14 (edition 4) of the book of Blau (ISBN 3642403360 (978-3642403361)).b1acc1aka apo-[methylmalonyl-CoA:pyruvate carboxytransferase]aka propionyl-CoAaka pyruvate carboxylaseaka trans-3-methylglutaconyl-CoAaka 3-methylbut-2-enoyl-CoAbiotin covalantly bound to lysineea9aka Holocarboxylase Synthetaseaka acetyl-CoA carboxylaseaka acetyl-CoA carboxylaseaka Propionate metabolismaka holo-[methylmalonyl-CoA:pyruvate carboxytransferase]aka apo-[propionyl-CoA:carbon-dioxide ligase (ADP-forming)]aka holo-[propionyl-CoA:carbon-dioxide ligase (ADP-forming)]aka apo-[3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)]aka holo-[3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)]aka pyruvate carboxylaseaka pyruvate carboxylaseea9ea93-Methylcrotonyl-CoA carboxylase 2 deficiencyDOID:0080580Human Disease Ontologypyruvate carboxylase deficiency diseaseDOID:3651Human Disease Ontology3-Methylcrotonyl-CoA carboxylase 1 deficiencyDOID:0080579Human Disease Ontology3-methylcrotonyl CoA carboxylase 2 deficiency pathwayPW:0002577Pathway Ontology3-methylcrotonyl CoA carboxylase 1 deficiency pathwayPW:0002576Pathway Ontology3-Methylcrotonyl-CoA carboxylase deficiencyDOID:0050710Human Disease Ontologybiotin metabolic pathwayPW:0000139Pathway Ontologyholocarboxylase synthetase deficiencyDOID:859Human Disease Ontologyholocarboxylase synthetase deficiency pathwayPW:0002255Pathway Ontologybiotinidase deficiency pathwayPW:0002254Pathway Ontologybiotinidase deficiencyDOID:856Human Disease Ontologypyruvate carboxylase deficiency pathwayPW:0001775Pathway Ontology9783642403361ISBNPhysician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic DiseasesSpringer2014Nenad BlauCarlo Dionisi ViciK Michael GibsonMarinus Duran22116691PubMedBiotin: biochemical, physiological and clinical aspects.Subcell Biochem2012Said HM8930409PubMedBiotinidase and its roles in biotin metabolism.Clin Chim Acta1996Hymes JWolf B