This pathway visualises the Moco biosynthesis, which is used as a cofactor for several enzymes. Several diseases (MoCD type A, B and C) are clinically very similar to sulphite oxidase (SO) deficiency (see [https://www.wikipathways.org/index.php/Pathway:WP4504] for the pathway related to SO-deficiency). This pathway was inspired by Chapter 12 of the book of Blau (ISBN 3642403360 (978-3642403361)).

Authors

Denise Slenter , Egon Willighagen , Josien Landman , Irene Hemel , and Finterly Hu

Cited In

Are you planning to include this pathway in your next publication? See How to Cite and add a link here to your paper once it's online.

Organism

Homo sapiens

Communities

Inborn Errors of Metabolism (IEM) Pathways Rare Diseases

Annotations

Disease Ontology: molybdenum cofactor deficiency type B xanthinuria molybdenum cofactor deficiency type C molybdenum cofactor deficiency

Pathway Ontology: molybdenum cofactor biosynthetic pathway molybdenum cofactor deficiency pathway xanthinuria type I pathway xanthinuria type II pathway altered molybdenum cofactor biosynthetic pathway

Participants

References

1. Mayr SJ, Röper J, Schwarz G. Alternative splicing of bicistronic MOCS1 defines a novel mitochondrial protein maturation mechanism [Internet]. Cold Spring Harbor Laboratory; 2018. Available from: http://dx.doi.org/10.1101/429183 DOI
2. Blau N, Duran M, Gibson KM, Dionisi-Vici C. Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases [Internet]. Springer; 2014. 867 p. Available from: https://books.google.com/books/about/Physician_s_Guide_to_the_Diagnosis_Treat.html?hl=&id=wJRBnwEACAAJ OpenLibrary Worldcat
3. Llamas A, Mendel RR, Schwarz G. Synthesis of adenylated molybdopterin: an essential step for molybdenum insertion. J Biol Chem. 2004 Dec 31;279(53):55241–6. PubMed Europe PMC Scholia
4. Schwarz G. Molybdenum cofactor biosynthesis and deficiency. Cell Mol Life Sci. 2005 Dec;62(23):2792–810. PubMed Europe PMC Scholia