Abstract
Alkaptonuria, a rare inborn error of tyrosine metabolism, characterized by the absence of homogentisic acid oxidase results in the accumulation of homogentisic acid in the body. Associated renal failure and cerebral infarction is rare and usually occurs in the later stages of the disease. We report a 55-year-old male who presented, initially with features of stroke and degenerative arthritis. He had pigmentation of sclerae, darkening of urine on long standing, abnormal renal profile, degenerative arthritis and cerebral infarction. Alkaptonuria was suspected and biochemical tests confirmed mild renal impairment, homogentisic acid in urine and homogentisic acid crystal was detected cytologically in urine sediment. Such a case of Alkaptonuric ochronosis with cerebrovascular and renal complications have been rarely reported in the previous literature.
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References
Longo N. Inherited disorders of amino acid metabolism and storage. In Braunwald E, Fauci AS, Kasper DL, Hauser SL, Longo DL, Wilson J Eds. Harrison’s Principles of Internal Medicine (15th edn). New York: McGraw-Hill 2001; 2301–2309.
Nafees M, Muazzam M. Alkaptonuria — Case report and Review of Literature. Pak J Med Sci 2007; 23(4): 650–653.
Watts RWE, Watts RA. Alkaptonuria: a 60-yr follow-up. Rheumatol 2007; 46(2): 358–359.
La Du BN. Alkaptonuria. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited disease. 8th ed. New York: McGraw-Hill; 2001; 2109–2123.
Micali G, Di Stefano AG, Nasca MR, Musumeci ML. A 46 year-old man with a 4-year history of diffuse brownish black pigmentation. Arch Dermatol 1998; 134(1): 97–102.
Phornphutkul C, Introne WJ, Perry MB. Natural history of alkaptonuria. New Engl J Med 2002; 347(26): 2111–2121.
Glassock RJ. Hematuria and Pigmenturia. In Massary SG, Glassock RJ Eds. Massary & Glassock’s textbook of nephrology (4th edn). Philadelphia: Lippincott Williams & Wilkins 2001; 561–566.
Harold Varley, Alan H. Gowenlock, Maurice Bell. Alkaptonuria, Homogentisic acid in urine in Practical Clinical Biochemistry vol I, (5th Edition), William Heinemann Medical Books Ltd 1980; 1192–1193.
Keller JM, Macaulay W, Nercessian OA, Jafee IA. New developments in ochronosis: review of the literature. Rheumatol Int 2005; 25(2): 81–85.
Roberts LW, McMillin GA, Burtis AC. In: Reference Information for the clinical laboratory. Tietz text book of clinical chemistry 4th ed: Philadelphia: Saunders; 2006: 2275.
Fisher AA, Davis MW. Alkaptonuric ochronosis with Aortic valve and joint replacement and femoral fracture. A case report & literature review. Clin Med Res 2004; 2(4): 209–215.
Liu W, Prayson RA. Dura mater involvement in ochronosis (alkaptonuria). Arch Pathol Lab Med 2001; 125(7): 961–963.
Kazancioglu R, Taylan I, Aksak F, Durak H, Kumbasar B, Yenigun M, Sar F. Alkaptonuria and renal failure: A case report. J Nephrol 2004; 17(3): 441–445.
Morava E, Kosztolanyi 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(1): 108–111.
Introne WJ, Phornphutkul C, Bernardini I, McLaughlin K, Fitzpatrick D, Gahl WA. Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation. Mol Genet Metab 2002; 77(1–2): 136–142.
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Nanda, S.K., Suresh, D.R., Vamseedhar, A. et al. Cerebro-spinal and renal ochronosis: A rare case report. Indian J Clin Biochem 25, 213–216 (2010). https://doi.org/10.1007/s12291-010-0038-6
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DOI: https://doi.org/10.1007/s12291-010-0038-6