Riboflavin and CoQ disorders (WP5037)

Homo sapiens

Authors

Denise Slenter , Egon Willighagen , Finterly Hu , Friederike Ehrhart , and Eric Weitz

Activity

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Cited In

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Organisms

Homo sapiens

Communities

Inherited Metabolic Disorders (IMD) Pathways Rare Diseases

Annotations

Disease Ontology

Brown-Vialetto-Van Laere syndrome 1 primary coenzyme Q10 deficiency 5 primary coenzyme Q10 deficiency 4 Fazio-Londe disease coenzyme Q10 deficiency disease primary coenzyme Q10 deficiency 6 Brown-Vialetto-Van Laere syndrome primary coenzyme Q10 deficiency 3 primary coenzyme Q10 deficiency 2 primary coenzyme Q10 deficiency 1 riboflavin deficiency Brown-Vialetto-Van Laere syndrome 2

Pathway Ontology

riboflavin metabolic pathway ubiquinone biosynthetic pathway

References

1. Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases [Internet]. Blau N, Duran M, Gibson KM, Dionisi-Vici C. Springer; 2014. 0 p. Available from: https://books.google.com/books/about/Physician_s_Guide_to_the_Diagnosis_Treat.html?hl=&id=wJRBnwEACAAJ OpenLibrary Worldcat
2. Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. Quinzii CM, Kattah AG, Naini A, Akman HO, Mootha VK, DiMauro S, et al. Neurology. 2005 Feb 8;64(3):539–41. PubMed Europe PMC Scholia
3. A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Quinzii C, Naini A, Salviati L, Trevisson E, Navas P, Dimauro S, et al. Am J Hum Genet. 2006 Feb;78(2):345–9. PubMed Europe PMC Scholia
4. Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1. Le Ber I, Dubourg O, Benoist JF, Jardel C, Mochel F, Koenig M, et al. Neurology. 2007 Jan 23;68(4):295–7. PubMed Europe PMC Scholia
5. CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Mollet J, Delahodde A, Serre V, Chretien D, Schlemmer D, Lombes A, et al. Am J Hum Genet. 2008 Mar;82(3):623–30. PubMed Europe PMC Scholia
6. Identification and functional characterization of a novel human and rat riboflavin transporter, RFT1. Yonezawa A, Masuda S, Katsura T, Inui K ichi. Am J Physiol Cell Physiol. 2008 Sep;295(3):C632-41. PubMed Europe PMC Scholia
7. Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. Green P, Wiseman M, Crow YJ, Houlden H, Riphagen S, Lin JP, et al. Am J Hum Genet. 2010 Mar 12;86(3):485–9. PubMed Europe PMC Scholia
8. Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain. Yao Y, Yonezawa A, Yoshimatsu H, Masuda S, Katsura T, Inui KI. J Nutr. 2010 Jul;140(7):1220–6. PubMed Europe PMC Scholia
9. Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. Bosch AM, Abeling NGGM, Ijlst L, Knoester H, van der Pol WL, Stroomer AEM, et al. J Inherit Metab Dis. 2011 Feb;34(1):159–64. PubMed Europe PMC Scholia
10. Biosynthesis of flavin cofactors in man: implications in health and disease. Barile M, Giancaspero TA, Brizio C, Panebianco C, Indiveri C, Galluccio M, et al. Curr Pharm Des. 2013;19(14):2649–75. PubMed Europe PMC Scholia
11. Functional involvement of RFVT3/SLC52A3 in intestinal riboflavin absorption. Yoshimatsu H, Yonezawa A, Yao Y, Sugano K, Nakagawa S, Omura T, et al. Am J Physiol Gastrointest Liver Physiol. 2014 Jan;306(2):G102-10. PubMed Europe PMC Scholia
12. Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis. Stefely JA, Reidenbach AG, Ulbrich A, Oruganty K, Floyd BJ, Jochem A, et al. Mol Cell. 2015 Jan 8;57(1):83–94. PubMed Europe PMC Scholia