Alkaptonurie Veröffentlichungen

Link zu den neustens pubmed-Papers über Alkaptonurie




  1. Ranganath, L. R., Jarvis, J. C., and Gallagher, J. A. (2013) Recent advances in management of alkaptonuria (invited review; best practice article). J Clin.Pathol.66, 367-373. pubmed
  2. Cox, T. F. and Ranganath, L. (2011) A quantitative assessment of alkaptonuria : Testing the reliability of two disease severity scoring systems. J.Inherit.Metab Dis. 34, 1153-1162. pubmed
  3. Ranganath, L. R. and Cox, T. F. (2011) Natural history of alkaptonuria revisited: analyses based on scoring systems. J Inherit.Metab Dis. 34, 1141-1151. pubmed
  4. Kayser, M. A., Introne, W., and Gahl, W. A. (2009) Chapter 92: Alkaptonuria. In Vale, D., Beaudet, A. L., Vogelstein, B., Kinzler, K. W., Antonarakis, S. E., Ballabio, A., Scriver, C. R., Sly, W. S., and Childs, B., editors. The Scriver's Online Metabolic & Molecular Bases of Inherited Diseases, McGrawHill Companies, Columbus, 1-30. OMMBID
  5. Introne WJ, Gahl WA. (2013) Alkaptonuria.In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. pubmed

  6. Phornphutkul, C., Introne, W. J., Perry, M. B., Bernardini, I., Murphey, M. D., Fitzpatrick, D. L., Anderson, P. D., Huizing, M., Anikster, Y., Gerber, L. H., and Gahl, W. A. (2002) Natural history of alkaptonuria. N.Engl.J.Med. 347,  2111-2121. pubmed


  1. Vinjamuri, S., Ramesh, C. N., Jarvis, J., Gallagher, J. A., and Ranganath, L. L. (2011) Nuclear medicine techniques in the assessment of alkaptonuria. Nucl.Med.Commun. 32, 880-886. pubmed


  1.  Millucci L, Ghezzi L, Paccagnini E, Giorgetti G, Viti C, Braconi D, Laschi M, Geminiani M, Soldani P, Lupetti P, Orlandini M, Benvenuti C, Perfetto F, Spreafico A, Bernardini G, Santucci A. (2014) Amyloidosis, inflammation, and oxidative stress in the heart of an alkaptonuric patient. Mediators Inflamm. 2014, 258471-258486. pubmed
  2. Pfeffer C, Bagaev E, Sotlar K, Hagl C.(2014) Aortic valve replacement surgery reveals previously undiagnosed alkaptonuric ochronosis. Eur J Cardiothorac Surg. 1, 1. pubmed
  3. Hannoush, H., Introne, W. J., Chen, M. Y., Lee, S. J., O'Brien, K., Suwannarat, P., Kayser, M. A., Gahl, W. A., and Sachdev, V. (2012) Aortic stenosis and vascular calcifications in alkaptonuria. Mol.Genet.Metab. 105, 198-202. pubmed
  4. Pettit, S. J.  (2011) Cardiovascular manifestations of Alkaptonuria. J Inherit.Metab Dis. 34, 1177-1181. pubmed
  5. Roser, M., Möller, J., Komoda, T., Knosalla, C., Stawowy, P. (2008) Alkaptonuric aortic stenosis. Eur.Heart J. 29, 444. pubmed
  6. Wilke, A.  (2010) Image of the month. Bluish-black pigmentation of the sclera and the aortic valve in a patient with alkaptonuric ochronosis. Herz 35, 41. pubmed
  7. Wilke, A.  (2009) Ochronosis as an unusual cause of valvular defect: a case report. J.Med.Case.Reports.3, 9302. pubmed


  1. Jebaraj I, Chacko BR, Chiramel GK, Matthai T, Parameswaran A. (2013) A simplified staging system based on the radiological findings in different stages of ochronotic spondyloarthropathy. Indian J Radiol Imaging. 23, 101-105. pubmed

  2. Lange U, Müller-Ladner U, Dischereit G. (2014) [Severe osteoarthritic manifestations of ochronosis]. Z Rheumatol. 73, 420-423. pubmed 

  3. Freche, S.  (2013) [Arthropathia ochronotica: a rare cause of early joint degeneration]. Dtsch.Med. Wochenschr.138, 1509-1512. pubmed
  4. Ramsperger, R.  (1994) [Alkaptonuria and ochronotic arthropathy. Arthroscopic and intraoperative findings in implantation of a knee joint surface replacing prosthesis]. Chirurg 65, 1061-1065. pubmed
  5. Ranga, U.  (2013) Ochronotic spondyloarthropathy. J Clin.Diagn.Res.7, 403-404. pubmed
  6. Al Mahfoudh, R.  (2008) Alkaptonuria presenting with ochronotic spondyloarthropathy. Br.J.Neurosurg.22, 805-807. pubmed
  7. Balaban, B.  (2006) Ochronotic spondyloarthropathy: spinal involvement resembling ankylosing spondylitis. Clin.Rheumatol. 25,598-601. pubmed
  8. Taylor, A. M.  (2010) Ultrastructural examination of tissue in a patient with alkaptonuric arthropathy reveals a distinct pattern of binding of ochronotic pigment. Rheumatology.(Oxford) 49, 1412-1414. pubmed
  9. Taylor, A. M.  (2011) The role of calcified cartilage and subchondral bone in the initiation and progression of ochronotic arthropathy in alkaptonuria. Arthritis Rheum.63, 3887-3896. pubmed
  10. Taylor, A. M.  (2012) Identification of trabecular excrescences, novel microanatomical structures, present in bone in osteoarthropathies. Eur.Cell Mater. 23, 300-309. pubmed
  11. Chow, W. Y.  (2011) Collagen atomic scale molecular disorder in ochronotic cartilage from an alkaptonuria patient, observed by solid state NMR. J.Inherit.Metab Dis. 34, 1137-1140. pubmed
  1. Perry, M. B., Suwannarat, P., Furst, G. P., Gahl, W. A., and Gerber, L. H. (2006) Musculoskeletal findings and disability in alkaptonuria. J.Rheumatol. 33, 2280-2285. pubmed
  2. Manoj Kumar, R. V. and Rajasekaran, S. (2003) Spontaneous tendon ruptures in alkaptonuria. J.Bone Joint Surg.Br.85, 883-886. pubmed
  3. Jebaraj, I. and Rao, A. (2006) Achilles tendon enthesopathy in ochronosis. J.Postgrad.Med. 52, 47-48. pubmed
  4. Chua, S. Y. and Chang, H. C. (2006) Bilateral spontaneous rupture of the quadriceps tendon as an initial presentation of alkaptonuria--a case report. Knee. 13, 408-410. pubmed
  5. Ando, W., Sakai, T., Kudawara, I., Ieguchi, M., Miyamoto, T., and Ohzono, K. (2004) Bilateral achilles tendon ruptures in a patient with ochronosis: a case report. Clin.Orthop.Relat Res. 424, 180-182. pubmed
  6. MacKenzie, C. R., Major, P., and Hunter, T. (1982) Tendon involvement in a case of ochronosis. J.Rheumatol. 9,634-636. pubmed
  7. Filippou, G., Frediani, B., Selvi, E., Bertoldi, I., and Galeazzi, M. (2008) Tendon involvement in patients with ochronosis: an ultrasonographic study. Ann.Rheum.Dis. 67, 1785-1786. pubmed
  1. Introne, W. J.  (2011) A 3-year randomized therapeutic trial of nitisinone in alkaptonuria. Mol.Genet.Metab103, 307-314. pubmed
  2. Preston, A. J.  (2013) Ochronotic osteoarthropathy in a mouse model of alkaptonuria, and its inhibition by nitisinone. Ann.Rheum.Dis. pubmed
  3. Sander, J.  (2011) Monitoring tyrosinaemia type I: Blood spot test for nitisinone (NTBC). Clin.Chim.Acta412, 134-138.
  4. Sommerfeld, B. (2006) Nitisinon (Orfadin®). Neue Arzneimittel 24, 182-183.
  5. Suwannarat, P.  (2005) Use of nitisinone in patients with alkaptonuria. Metabolism 54, 719-728. pubmed
  6. Ranganath, L.R., Milan, A.M., Hughes, A.T., Dutton, J.J., Fitzgerald, R., Briggs, M.C., Bygott, H., Psarelli, E.E., Cox, T.F., Gallagher, J.A., Jarvis, J.C., van Kan, C., Hall, A.K., Laan, D., Olsson, B., Szamosi, J., Rudebeck, M., Kullenberg, T., Cronlund, A., Svensson, L., Junestrand, C., Ayoob, H., Timmis, O.G., Sireau N, Le Quan Sang KH, Genovese F, Braconi D, Santucci A, Nemethova M, Zatkova A, McCaffrey J, Christensen P, Ross G, Imrich R, Rovensky J. (2014) Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid excretion in patients with alkaptonuria after 4 weeks of treatment. Ann Rheum Dis. (in press) (pubmed)
  1. Millucci, L., Ghezzi, L., Bernardini, G., Braconi, D., Lupetti, P., Perfetto, F., Orlandini, M., Santucci A.(2014) Diagnosis of secondary amyloidosis in alkaptonuria. Diagn Pathol. 9,185-194. pubmed

  2. Millucci L, Ghezzi L, Paccagnini E, Giorgetti G, Viti C, Braconi D, Laschi M, Geminiani M, Soldani P, Lupetti P, Orlandini M, Benvenuti C, Perfetto F, Spreafico A, Bernardini G, Santucci A. (2014) Amyloidosis, inflammation, and oxidative stress in the heart of an alkaptonuric patient. Mediators Inflamm. 2014, 258471-258486. pubmed
  3. Spreafico, A.  (2013) Antioxidants inhibit SAA formation and pro-inflammatory cytokine release in a human cell model of alkaptonuria. Rheumatology.(Oxford)pubmed
  4. Millucci, L.  (2012) Alkaptonuria is a novel human secondary amyloidogenic disease. Biochim.Biophys. Acta 1822, 1682-1691. pubmed
  1. Millucci, L., Giorgetti, G., Viti, C., Ghezzi, L., Gambassi, S., Braconi, D., Marzocchi, B., Paffetti, A., Lupetti, P., Bernardini, G., Orlandini, M., Santucci A. (2014) Chondroptosis in Alkaptonuric Cartilage. J Cell Physiol. (in press) pubmed

  2. Braconi, D., Millucci, L., Ghezzi, L., Santucci, A. (2013) Redox proteomics gives insights into the role of oxidative stress in alkaptonuria. Expert Rev Proteomics. 10, 521-535. pubmed

  3. Braconi, D.  (2010) Proteomic and redox-proteomic evaluation of homogentisic acid and ascorbic acid effects on human articular chondrocytes. J.Cell Biochem.111, 922-932. pubmed
  4. Braconi, D.  (2011) Redox-proteomics of the effects of homogentisic acid in an in vitro human serum model of alkaptonuric ochronosis. J Inherit.Metab Dis.34, 1163-1176. pubmed
  5. Braconi, D.  (2012) Biochemical and proteomic characterization of alkaptonuric chondrocytes. J Cell Physiol227, 3333-3343. pubmed
  6. Laschi, M.  (2012) Homogentisate 1,2 dioxygenase is expressed in human osteoarticular cells: implications in alkaptonuria. J Cell Physiol227, 3254-3257. pubmed
  7. Selvi, E.  (2010) False proteinuria in patients with alkaptonuria. Clin.Exp.Rheumatol.28, 591. pubmed
  8. Tinti, L.  (2011) A novel ex vivo organotypic culture model of alkaptonuria-ochronosis. Clin.Exp. Rheumatol. 29, 693-696. pubmed
  9. Tinti, L.  (2011) Development of an in vitro model to investigate joint ochronosis in alkaptonuria. Rheumatology.(Oxford) 50, 271-277. pubmed
  10. Tinti, L.  (2010) Evaluation of antioxidant drugs for the treatment of ochronotic alkaptonuria in an in vitro human cell model. J.Cell Physiol225, 84-91. pubmed


  1. Zatkova, A. (2011) An update on molecular genetics of Alkaptonuria (AKU). J Inherit.Metab Dis. 34, 1127-1136. pubmed
  2. Zatkova, A.  (2012) Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database. JIMD.Rep.4, 55-65. pubmed
  3. Gucev, Z. S.  (2011) Early-onset ocular ochronosis in a girl with alkaptonuria (AKU) and a novel mutation in homogentisate 1,2-dioxygenase (HGD). Prilozi.32, 305-311. pubmed
  4. Vilboux, T.  (2009) Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. Hum.Mutat.30, 1611-1619. pubmed
  5. Oexle, K.  (2008) Three-generational alkaptonuria in a non-consanguineous family. J.Inherit.Metab Dis. Suppl 2, 425-430. pubmed

  6. Rodriguez, J. M.  (2000) Structural and functional analysis of mutations in alkaptonuria. Hum.Mol.Genet.9, 2341-2350. pubmed
  7. Beltran-Valero, D. B.  (1999) Mutational analysis of the HGO gene in Finnish alkaptonuria patients. J.Med.Genet.36, 922-923. pubmed
  8. Beltran-Valero, D. B.  (1999) Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO). Am.J.Hum.Genet.64, 1316-1322. pubmed
  9. Granadino, B.  (1997) The human homogentisate 1,2-dioxygenase (HGO) gene. Genomics 43, 115-122. pubmed
  10. Fernandez-Canon, J. M.  (1996) The molecular basis of alkaptonuria. Nat.Genet.14, 19-24. pubmed
  11. Janocha, S.  (1994) The human gene for alkaptonuria (AKU) maps to chromosome 3q. Genomics19, 5-8. pubmed
  12. Muller, C. R.  (1999) Allelic heterogeneity of alkaptonuria in Central Europe. Eur.J.Hum.Genet.7, 645-651. pubmed
  1. Lindner M, Bertelmann T. (2014) On the ocular findings in ochronosis: a systematic review of literature. BMC Ophthalmol. 14,12. pubmed
  1. Helliwell, T. R.  (2008) Alkaptonuria--a review of surgical and autopsy pathology. Histopathology53, 503-512. pubmed


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