Alkaptonuria

Brenner's Encyclopedia of Genetics: Second Edition

Volumn , Issue , 2013, Pages 71-75

  Gallagher, J A ^a   Ranganath, L R ^a   Zatkova, A ^b  

^a UNIVERSITY OF LIVERPOOL   (United Kingdom)

^b INSTITUTE OF CHEMISTRY   (Slovakia)

Author keywords

Alkaptonuria; Cartilage; Hereditary tyrosinemias; Homogentisate 1,2 dioxygenase; Homogentisic acid; Nitisinone; Ochronosis; Osteoarthropathy; Phenylalanine; Pigmentation; Tyrosine; Ultra rare disease

Indexed keywords

EID: 84908334923     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-12-374984-0.00030-9     Document Type: Chapter

References (16)

1. Bödeker C.H.D. über das alcapton: ein beitrag zur frage: welche stoffe des harns können kupferreduction bewirken? (About the alcapton: A beitrag to ask - What substances in the urine can cause copper reduction?). Zeitschrift für Rationelle Medicin 1859, 7:130-145.
2. Fernández-Cañón J.M., Granadino B., Beltrán-Valero de Bernabé D., et al. The molecular basis of alkaptonuria. Nature Genetics 1996, 14:19-24.
3. Garrod A.E. The incidence of alkaptonuria: A study in chemical individuality. Molecular Medicine 1996, 2:274-282. 1902.
4. Helliwell T.R., Gallagher J.A., Ranganath L. Alkaptonuria - A review of surgical and autopsy pathology. Histopathology 2008, 53:503-512.
5. Introne W.J., Perry M.B., Troendle J., et al. A 3-year randomized therapeutic trial of nitisinone in alkaptonuria. Molecular Genetics and Metabolism 2011, 103:307-314.
6. Kraus V.B. Rare osteoarthritis: Ochronosis, Kashin-Beck disease and Mseleni joint disease. Rheumatology 2011, 1825-1837. Mosby, Philadelphia, PA. 5th edn. M.C. Hochberg, S.J. Smolen, M.E. Weinblatt, M.H. Weisman (Eds.).
7. La Du B.N., Zannoni V.G., Laster L., Seegmiller J.E. The nature of the defect in tyrosine metabolism in alcaptonuria. Journal of Biological Chemistry 1958, 230:251-260.
8. Phornphutkul C., Introne W.J., Perry M.B., et al. Natural history of alkaptonuria. The New England Journal of Medicine 2002, 347:2111-2121.
9. Taylor A.M., Wlodarski B., Prior I.A., et al. Ultrastructural examination of tissue in a patient with alkaptonuric arthropathy reveals a distinct pattern of binding of ochronotic pigment. Rheumatology (Oxford) 2010, 49:1412-1414.
10. Tinti L., Taylor A.M., Santucci A., et al. Development of an in vitro model to investigate joint ochronosis in alkaptonuria. Rheumatology (Oxford) 2011, 50:271-277.
11. Zatkova A. An update on molecular genetics of alkaptonuria (AKU). Journal of Inherited Metabolic Disease 2011, 34(6):1127-1136.
12. AKU Society http://www.alkaptonuria.info.
13. findAKUre Research Consortium http://findakure.org.
14. French ALCAP http://www.alcap.fr.
15. HGD mutation database http://hgddatabase.cvtisr.sk.
16. Italian AIMAKU http://www.aimaku.it.