Recent advances in management of alkaptonuria (invited review; Best practice article)

Journal of Clinical Pathology

Volumn 66, Issue 5, 2013, Pages 367-373

  Ranganath, Lakshminarayan R ^a   Jarvis, Jonathan C ^b   Gallagher, James A ^b  

^a ROYAL LIVERPOOL UNIVERSITY HOSPITAL   (United Kingdom)

^b UNIVERSITY OF LIVERPOOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

4 HYDROXYPHENYLPYRUVATE DIOXYGENASE; ANTICONVULSIVE AGENT; ANTIOXIDANT; ASCORBIC ACID; GABAPENTIN; HOMOGENTISIC ACID; LOCAL ANESTHETIC AGENT; NITISINONE; NONSTEROID ANTIINFLAMMATORY AGENT; OPIATE; PARACETAMOL; PHENYLALANINE; TYROSINE;

ACUPUNCTURE; ALKAPTONURIA; ANTICONVULSANT THERAPY; ARTHROPLASTY; ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; DRUG EFFICACY; DRUG HALF LIFE; DRUG MEGADOSE; DRUG SAFETY; DRUG TOLERABILITY; EVIDENCE BASED MEDICINE; EYE TOXICITY; FOLLOW UP; HUMAN; JOINT PROSTHESIS; LABORATORY DIAGNOSIS; LIFESTYLE MODIFICATION; LIVER TOXICITY; MEDICAL HISTORY; METABOLIC DISORDER; METABOLITE; MORBIDITY; NERVE BLOCK; NEUROTOXICITY; NONHUMAN; NUCLEOTIDE SEQUENCE; OXIDATIVE STRESS; PAIN; PATHOPHYSIOLOGY; PATIENT MONITORING; PHYSIOTHERAPY; PREVALENCE; PRIORITY JOURNAL; PROTEIN METABOLISM; PROTEIN RESTRICTION; PROTEIN SYNTHESIS; RISK FACTOR; SCREENING TEST; SKIN TOXICITY; SPINE SURGERY; SPONDYLOARTHROPATHY; TRANSCUTANEOUS NERVE STIMULATION; TRANSMISSION ELECTRON MICROSCOPY; TREATMENT OUTCOME; URINALYSIS;

ALKAPTONURIA; ANIMALS; HUMANS; PRACTICE GUIDELINES AS TOPIC;

EID: 84876765760     PISSN: 00219746     EISSN: 14724146     Source Type: Journal    
DOI: 10.1136/jclinpath-2012-200877     Document Type: Article

References (35)

1. Garrod AE. The Croonian lectures on inborn errors of metabolism. Lecture II. Alkaptonuria. Lancet 1908;2: 73-9.
2. La Du BN, Zannoni VG, Laster L, et al. The nature of the defect in tyrosine metabolism in alcaptonuria. J Biol Chem 1958;230: 251-60.
3. Pollak MR, Chou YH, Cerda JJ, et al. Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2. Nat Genet 1993;5: 201-4. (Pubitemid 23293459)
4. Fernández-Cañón JM, Granadino B, Beltran-Valero de Bernabe D, et al. The molecular basis of Alkaptonuria. Nat Genet 1996;14: 19-24. (Pubitemid 26301542)
5. Granadino B, Beltran-Valero de Bernabe D, Fernandez-Canon JM, et al. The human homogentisate 1,2 dioxigenase (HGO) gene. Genomics 1997;43: 115-22. (Pubitemid 27335213)
6. Titus GP, Mueller CR, Burgner J, et al. Crystal structure of human homogentisate dioxygenase. Nat Struct Biol 2000;7: 542-6. (Pubitemid 30445908)
7. La Du BN. Alkaptonuria. In: Scriver CR, Beaudet AL, Sly WS, Valle D. eds The metabolic and molecular bases of inherited disease. 8th edn. Vol 2. New York: McGraw-Hill, 2001: 2109-23.
8. Zannoni VG, Lomtevas N, Goldfiner S. Oxidation of homogentisic acid to ochronotic pigment in connective tissue. Biochimica Biophysica Acta 1969;177: 94.
9. Helliwell TR, Gallagher JA, Ranganath L. Alkaptonuria - a review of surgical and autopsy pathology. Histopathology 2008;53: 503-12.
10. Perry MB, Suwannarat P, Furst GP, et al. Musculoskeletal findings and disability in Alkaptonuria. J Rheumatol 2006;33: 2280-5. (Pubitemid 44749789)
11. Akeda K, Kasai Y, Kawakita E, et al. Thoracic myelopathy with Alkaptonuria. Spine 2008;33:E62-5.
12. Fisher AA, Davis MW. Alkaptonuric ochronosis with aortic valve and joint replacements and femoral fracture: a case report and literature review. Clin Med Res 2004;2: 209-15.
13. Ranganath LR, Cox TF. Natural history of Alkaptonuria revisited: analyses based on scoring systems. J Inherit Metab Dis 2011;34: 1141-51.
14. Krizek V. Urolithiasis and prostatolithiasis in alcaptonuria with ochronosis. Int Urol Nephrol 1971;3: 245-50.
15. Introne WJ, Phornphutkul C, Bernardini I, et al. Exacerbation of the ochronosis of Alkaptonuria due to renal insufficiency and improvement after renal transplantation. Mol Genet Metab 2002;77: 136-42. (Pubitemid 35178525)
16. Manoj Kumar RV, Rajasekaran S. Spontaneous tendon ruptures in Alkaptonuria. J Bone Joint Surg 2003;85: 883-6. (Pubitemid 36986854)
17. Pettit SJ, Fisher M, Gallagher JA, et al. Cardiovascular manifestations of Alkaptonuria. J Inherit Metab Dis 2011;34: 1177-81.
18. Srsen S, Vondracek J, Srsnova K, et al. Analysis of the life span of alkaptonuric patients. [Slovak] Cas Lek Cesk 1985;124: 1288-91. (Pubitemid 15248742)
19. Taylor AM, Wlodarski B, Prior IA, 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: 1412-14.
20. Tinti L, Taylor AM, Santucci A, et al. Development of an in vitro model to investigate joint ochronosis in Alkaptonuria. Rheumatology (Oxford) 2011;50: 271-7.
21. Taylor AM, Preston AJ, Paulk NK, et al. Ochronosis in a murine model of alkaptonuria is synonymous to that in the human condition. Osteoarthritis Cartilage 2012;20: 880-6.
22. Taylor AM, Boyde A, Wilson PJ, et al. The role of calcified cartilage and subchondral bone in the initiation and progression of ochronotic arthropathy in alkaptonuria. Arthritis Rheum 2011;63: 3887-96.
23. Ranganath LR, Taylor AM, Gallagher JA, et al. Identification of Alkaptonuria in the general population: a United Kingdom experience describing the challenges, possible solutions and persistent barriers. J Inherit Metab Dis 2011;34: 723-30.
24. Cox TF, Ranganath L. A quantitative assessment of alkaptonuria: testing the reliability of two disease severity scoring systems. J InheritMetab Dis 2011;34: 1153-62.
25. O'Brien WM, La Du BN, Bunim JJ. Biochemical, pathologic and clinical aspects of alcaptonuria, ochronosis and ochronotic arthropathy: review of world literature (1584-1962). Am J Med 1963;34: 813-38.
26. Phomphutkul C, Introne WJ, Perry MB, et al. Natural History of Alkaptonuria. N Engl J Med 2002;347: 2111-21. (Pubitemid 36015123)
27. Pradeep JK, Kehinde EO, Daar AS. Symptomatic response to ascorbic acid. Br J Urol 1996;77: 319-20. (Pubitemid 26050190)
28. Wolff JA, Barshop B, Nyhan WL, et al. Effects of ascorbic acid in Alkaptonuria: alterations in benzoquinone acetic acid and an ontogenic effect in infancy. Pediatr Res 1989;26: 140-4. (Pubitemid 19195101)
29. de Haas V, Carbasius Weber EC, de Klerk JB, et al. The success of dietary protein restriction in Alkaptonuria patients is age-dependent. J Inherit Metab Dis 1998;21: 791-8. (Pubitemid 28558675)
30. Kobak AC, Oder G, Kobak SA, et al. Ochronotic arhtropathy: disappearance of Alkaptonuria after liver transplantation for hepatitis B-related cirrhosis. J Clin Rheumatol 2005;11: 323-5. (Pubitemid 44384024)
31. McKiernan PJ. Nitisinone in the treatment of hereditary tyrosinaemia type I. Drugs 2006;66: 743-50. (Pubitemid 43765222)
32. Suwannarat P, O'Brien K, Perry MB, et al. Use of nitisinone in patients with Alkaptonuria. Metab Clin Exp 2005;54: 719-28. (Pubitemid 40725319)
33. Introne WJ, Perry MB, Troendle J, et al. A 3-year randomized therapeutic trial of nitisinone in Alkaptonuria. Mol Genet Metab 2011;103: 307-14.
34. Australian Public Assessment Report for Nitisinone. January 2011.
35. Preston AJ, Keenan CM, Sutherland H, et al. Ochronotic osteoarthropathy in a mouse model of alkaptonuria, and its inhibition by nitisinone. Ann Rheum Dis 2013, in press.