REVIEW PAPER
The clinical picture of alkaptonuria and ochronosis
Online publication date: 2012-09-07
Reumatologia 2012;50(4):324-335
KEYWORDS
ABSTRACT
Alkaptonuria (ochronosis) is an inherited disorder of metabolism of aromatic amino acids phenylalanine and tyrosine, due to the lack of activity of the enzyme homogentisate 1,2-dioxygenase. The homogentisic acid is not metabolized, accumulates in the body and is excreted into the urine. The polymer – ochronotic pigment – impregnates bradytrophic tissues. Alkaptonuria is characterized by homogentisic acid accumulation in the body, the presence of homogentisic acid in urine, visible, functionally benign symptoms of eyes and ears, and debilitating changes in the locomotor system.
REFERENCES (17)
1.
Skinsnes OK. Generalized ochronosis: Report of an instance in which it was misdiagnozed as melanosarcoma, with resultant enucleation of an eye. Arch Path 1948; 45: 552-558.
2.
Brunner H. Über die Veränderungen des Schläfenbeines bei der Ochronose. Uschr Ohrenheilk 1929; 63: 997-1007.
3.
Hüttl S, Markovič O, Siťaj Š. Gelenkerguss bei der ochronotischen Arthtropathie. Z Rheumaforsch 1966; 25: 69-181.
4.
Siťaj Š, Červeňanský J, Urbánek T. Alcaptonuria and ochronosis (in Slovak). Bratislava, SAV, 1956; 156.
5.
Červeňanský J, Siťaj Š, Urbánek T. Alkaptonuria and ochronosis. J Bone Joint Sugr 1959; 41: 1169-1182.
6.
Barel J, Bamatter F, Courvoisier B, et al. Troubles familiaux du metabolisme des acides aminés (alcaptonurie, oligophrénie phénylpyruvique, cataracte congenitale dans une méme famille). Schweiz Med Wochenschr 1960; 90: 863-875.
7.
Urbánek T, Siťaj Š. Occurrence of alcaptonuria, ochronotic arthropathy and ankylosing spondylitis. Fysiatr Věs (in Slovak) 1955; 33: 85-91.
8.
Kihara T, Yasuda M, Watanabe H, et al. Coexistence of ochronosis and rheumatoid arthritis. Clin Rheumatol 1994; 13: 135-138.
9.
Rovenský J, Letkovská A, Schumacher HR, et al. Coexistence of ochronosis and rheumatoid arthritis: a cause of delay in diagnosis and treatment. J Clin Rheumatol 2000; 6: 214-217.
10.
Seegmiller JE, Zannoni VG, Laster L, et al. An enzymatis spectrophotometric method for the determination of homogentisic acid in plasma and urine. J Biol Chem 1961; 236: 774-777.
11.
Trnavská Z. Amino-acids in alkaptonuia. In: Congressus rheumatologicus checoslovacus in Thermis Piešťany 1960. Lenoch F, et al. (eds). SzdN, Praha 1962; 99-104.
12.
Anderson B. Corneal and conjunctival pigmentation among workers engaged in manufacture of hydroquinone. Arch Ophthal 1947; 38: 812.
13.
Sugar HS, Wandell WW. Ochronosis line pigmentation associated with the use of atabrine. Illinois Med J 1946; 89: 234-242.
14.
Morava E, Kosztolanyi G, Engelke UF, et al. Reversal of clinical symptoms and radiographic abnormalities with protein restriction and ascorbic acid in alkaptonuria. Ann Clin Biochem 2003; 40: 108-111.
15.
Turgay E, Canat D, Gurel MS, el al. Endogenous ochronosis. Clin Exp Dermatol 2009; 34: 865-868.
16.
Phornphutkul C, Introne WJ, Perry MB, et al. Natural history of alkaptonuria. N Engl J Med 2002; 26: 2111-2121.
17.
Suwannarat P, O?Brien K, Perry MB, et al. Use of nitisinone in patients with alkaptonuria. Metabolism 2005; 54: 719-728.
Copyright: © Narodowy Instytut Geriatrii, Reumatologii i Rehabilitacji w Warszawie. This is an Open Access journal, all articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) License (https://creativecommons.org/licenses/by-nc-sa/4.0/), allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.
Share
RELATED ARTICLE
| eISSN: | 2084-9834 |
| ISSN: | 0034-6233 |
We process personal data collected when visiting the website. The function of obtaining information about users and their behavior is carried out by voluntarily entered information in forms and saving cookies in end devices. Data, including cookies, are used to provide services, improve the user experience and to analyze the traffic in accordance with the Privacy policy. Data are also collected and processed by Google Analytics tool (more).
You can change cookies settings in your browser. Restricted use of cookies in the browser configuration may affect some functionalities of the website.
You can change cookies settings in your browser. Restricted use of cookies in the browser configuration may affect some functionalities of the website.
