Reversible keratopathy due to hypertyrosinaemia following intermittent low-dose nitisinone in alkaptonuria: A case report

JIMD Reports

Volumn 17, Issue , 2014, Pages 1-6

  Stewart, R M K ^a,b   Briggs, M C ^a   Jarvis, J C ^c   Gallagher, J A ^b   Ranganath, L ^a  

^a ROYAL LIVERPOOL UNIVERSITY HOSPITAL   (United Kingdom)

^b UNIVERSITY OF LIVERPOOL   (United Kingdom)

^c LIVERPOOL JOHN MOORES UNIVERSITY   (United Kingdom)

Author keywords

Dermal toxicity; Hereditary tyrosinaemia type; Homogentisic acid; Ocular symptom; Slit lamp examination

Indexed keywords

EID: 84940210431     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2014_307     Document Type: Chapter

References (18)

1. Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, Anderson PD, Huizing M, Anikster Y, Gerber LH, Gahl WA (2002) Natural history of Alkaptonuria. N Engl J Med 347:2111–2121
2. Helliwell TR, Gallagher JA, Ranganath L (2008) Alkaptonuria – areview of surgical and autopsy pathology. Histopathology 53: 503–512
3. McKiernan PJ (2006) Nitisinone in the treatment of hereditary tyrosinaemia type I. Drugs 66(6):743–750
4. Zannoni VG, Lomtevas N, Goldfinger S (1969) Oxidation of homogentisic acid to ochronotic pigment in connective tissue. Biochim Biophys Acta 177:94–105
5. Goodfellow RJ, Schwartz J, Leya F (2005) Black Aorta: a rare finding at aortic valve replacement. J Invasive Cardiol 17:165–167
6. O’Brien WM, La Du BN, Bunim JJ (1963) Biochemical, pathologic and clinical aspects of alcaptonuria, ochronosis and ochronotic arthropathy: review of world literature (1584–1962). Am J Med 34:813–838
7. Lock EA, Ellis MK, Gaskin P et al (1998) From toxicological problem to therapeutic use: the discovery of the mode of action of 2-(2-nitro-4-trifluromethylbenzoyl)-1,3-cyclohexanedione (NTBC), its toxicology and development as a drug. J Inherit Metab Dis 21:498–506
8. Meissner T, Betz RC, Pasternak SM, Eigelshoven S, Ruzicka T, Kruse R, Laitenberger G, Mayatepek E (2008) Richner-Hanhart syndrome detected by expanded newborn screening. Paediatr Dermatol 25:378–380
9. Lindstedt S, Holme E, Lock EA, Hjalmarson O, Strandvik B (1992) Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet 340:813–817
10. Masurel-Paulet A, Poggi-Bach J, Rolland MO, Bernard O, Guffon N, Dobbelaere D, Sarles J, deBaulny HO, Touati G (2008) NTBC treatment in tyrosinaemia type 1: long-term outcome in French patients. J Inherit Metab Dis 31:81–87
11. Gissen P, Preece MA, Willshaw HA, McKiernan PJ (2003) Ophthalmic follow-up of patients with tyrosinaemia type 1 on NTBC. J Inherit Metab Dis 26:13–16
12. Holme E, Linstedt S (1998) Tyrosinaemia type 1 and NTBC 2-(2-nitro-4-trifluromethylbenzoyl)-1,3-cyclohexanedione. J Inherit Metab Dis 21:507–517
13. Suwannarat P, O'Brien K, Perry MB, Sebring N, Bernardini I, Kaiser-Kupfer MI, Rubin BI, Tsilou E, Gerber LH, Gahl WA (2005) Use of nitisinone in patients with alkaptonuria. Metabolism 54 (6):719–728
14. Introne WJ, Perry MB, Troendle J, Tsilou E, Kayser MA, Suwannarat P, O'Brien KE, Bryant J, Sachdev V, Reynolds JC, Moylan E, Bernardini I (2011) Gahl WA A 3-year randomized therapeutic trial of nitisinone in alkaptonuria. Mol Genet Metab 103(4): 307–314
15. Ahamad S, Teckman JH, Lueder GT (2002) Corneal opacities associated with NTBC treatment. Am J Ophthalmol 134: 266–268
16. Fernstrom JD, Wurtman RJ, Hammarstrom-Wiklund B, Rand WM, Munro HN, Davidson CS (1979) Diurnal variations in plasma concentrations of tryptophan, tyrosine and other neutral amino acids: effect of dietary protein intake. Am J Clin Nutr 32: 1912–1922
17. Schauwvlieghe PP, Jacken J, Kestelyn P, Claerhout I (2012) Confocal microscopy of corneal crystals in a patient with hereditary tyrosinaemia type 1, treated with NTBC. Cornea 2:1–4
18. Lock EA, Gaskin P, Ellis MK et al (1996) Tissue distribution of 2-(2-nitro-4-trifluromethylbenzoyl)-1,3-cyclohexanedione (NTBC): effect on enzymes involved in tyrosine catabolism and relevance to ocular toxicity in the rat. Toxicol Appl Pharmacol 141: 439–447