A Two Alkaptonuria Case Diagnosed at Elderly Patient
Abstract
Alkaptonuria is a rare autosomal recessive metabolic disease due to a deficiency of e the homogentisic acid oxidase enzyme. We report two cases with advanced age. Our aim is to draw attention to the fact that alkaptonuria should suggestions for clarity in every patient who shows clinical features regardless of age. We diagnosed two patients, 61 and 69 years old, with alkaptonuria. Alkaptonuria is a rare disease that presents with multisystemic manifestation. While early detection of the clinical signs of the disease provides early diagnosis, appropriate treatment can significantly increase the quality of life.
Keywords
References
- Garrod AE. The incidence of alkaptonuria: a study in chemical individuality. 1902 Yale J Biol Med 2002;75(4):221-31. PMid:12784973).
- Peker E, Yonden Z, Sogut S. From darkening urine to early diagnosis of alkaptonuria. Indian J Dermatol Venereol Leprol 2008; 74:700; PMID:19180686; http://dx.doi.org/10.4103/0378-6323.45142.
- Saudubray JM, Sedel F, Walter JH. Clinical approach to treatable inborn metabolic diseases: an introduction. J Inherit Metab Dis 2006;29(2-3):261-74. ( PMid:16763886)
- Zhao BH, Chen BC, Shao de C, Zhang Q. Osteoarthritis Ochronotic arthritis A case study and review of the literature. Knee Surg Sports Traumatol Arthrosc. 2009;17:778-81.( PMid):19381613).
- Lindner M, Bertelmann T. On the ocular findings in ochronosis: a systematic review of the literature. BMC Ophthalmol 2014;14:12.
- Ventura-Ríos L, Hernández-Díaz C, GutiérrezPérez L, Bernal-González A, PichardoBahena R, Cedeño-Garcidueñas AL, et al. Ochronotic arthropathy as a paradigm of metabolically induced degenerative joint disease. A case-based review. Clin Rheumatol 2014;20. ( PMID: 24647979)
- Bunim JJ, McGuire JS Jr, Hilbish TF, et al. Alcaptonuria, clinical staff conference at the national institutes of health. Ann Intern Med 1957;47:1210. (PMid:13488201).
- Turgay E, Canat D, Gurel MS, Yuksel T, Baran MF, Demirkesen C. Endogenous ochronosis. Clin Exp Dermatol 2009;34(8): e865-8. (PMID: 20055850)
- Millucci L, Ghezzi L, Paccagnini E, Giorgetti G, Viti C, Braconi D, et al. Amyloidosis, inflammation, and oxidative stress in the heart of an alkaptonuric patient. Mediators Inflamm 2014;2014:258471. (PMid: 24876668).
- Morava E, Kosztolányi G, Engelke UF, Wevers RA. Reversal of clinical symptoms and radiographic abnormalities with protein restriction and ascorbic acid in alkaptonuria. Ann Clin Biochem 2003;40:108-11. (PMid:12542920).