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Indian Journal of Clinical Biochemistry

, Volume 30, Issue 4, pp 479–484 | Cite as

Five Cases of Alkaptonuria Among Two Generations of Single Family in Dharwad, Karnataka (India)

  • Dhiraj J. TrivediEmail author
  • Vikram Haridas
Case Report

Abstract

Alkaptonuria (AKU) is a disorder of tyrosine metabolism. A rare disorder due to accumulation of homogentisic acid leading to progressive deposition of grey to bluish black pigment causing degenerative changes in cartilage. Medical interest of AKU is due to medical triad arthropathy, Ochronosis and Homogentisic aciduria. A 38 ½ years old male presented with complain of back pain, which persisted since last 8 months. Hyper-pigmentation of skin of chick, discolouration on ear cartilage and pigmentation of the conjunctiva on both eyes were observed. X-ray findings were normal except inter-vertebral disc calcification. Based on the results obtained from Clinical examination, X-ray findings and Biochemical investigations, diagnosis was confirmed as AKU. On screening family members additional four persons have been detected positive but, without any clinical symptoms. AKU, though rare it may occur in cluster among the family members.

Keywords

Alkaptonuria Ochronosis Homogentisic acid Black urine Tyrosine 

Notes

Acknowledgments

We thank Management of SDM College of Medical Sciences and Hospital for providing support. Also we thank Mr. Gurusamy P and Mr. Ajay Kotkar for their technical help.

References

  1. 1.
    Srsen S, Miller CR, Fregin A, Srsnova K. Alkaptonuria in slovakia: 32 year research on phenotype and genotype. Mol Genet Metab. 2002;75(4):353–9 (PMID- 12051967).CrossRefPubMedGoogle Scholar
  2. 2.
    Srsen S, Zatková A, de Bernabe DB, Poláková H, et al. High frequency of alcaptonuria in slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots. Am J Hum Genet. 2000;67(5):1333–9 (PMID-11017803).CrossRefGoogle Scholar
  3. 3.
    Khadagawat R, Teckchandani R, Garg P, Arya A, Choudhary B. Alkaptonuria: early detection. Ind J Paediat. 1994;31:593–4.Google Scholar
  4. 4.
    Tarini GK, Ravindran V, Hema N. Alkaptonuria. Ind J Dermatol. 2011;56(2):194–6 (PMID-21716546).Google Scholar
  5. 5.
    Datta AK, Mandal S, Dasgupta A, Ghosh TK. Alkaptonuria diagnosed in a 4-month-old baby girl: a case report. Case J. 2008;1(1):308. doi: 10.1186/1757-1626-1-308.CrossRefGoogle Scholar
  6. 6.
    Verma SB. Early detection of alkaptonuria. Ind J Dermatol Venereol Leprol. 2005;71:189–91.CrossRefGoogle Scholar
  7. 7.
    Gayathri B, Sujatha R, Sumitra G, Kavitha M, Vijaya D. A case of alkaptonuria. Innov J Med Health Sci. 2013;3:246–8.Google Scholar
  8. 8.
    Haridas VM. Alkaptonuria a rare case for low back pain. IJRCI. 2013;1(1):339–44.Google Scholar
  9. 9.
    Henry JB. Clinical diagnosis and management by lab method. 12th ed. Philadelphia: Saunders Elsevier; 2007. p. 400.Google Scholar
  10. 10.
    Gowenlock AH. Varley’s practical clinical biochemistry. 6th ed. New Delhi: CBS publ; 2006. p. 764–5.Google Scholar
  11. 11.
    Valmikinathan K, Verghese N. Simple colour reaction for alkaptonuria. J Clin Path. 1966;19:200–1.PubMedCentralCrossRefPubMedGoogle Scholar
  12. 12.
    Yousefghahari B, Ahmadi A, Garan A. Three cases of alkaptonuria in one family in Mazandaran Province Iran. Caspian J Intern Med. 2013;4(2):677–80 (PMID- 24009959).PubMedCentralPubMedGoogle Scholar
  13. 13.
    AL-sbou M, Mwafi N. Nine cases of alkaptonuria in one family in south Jordan. Rhematol Int. 2012;32:621–5.CrossRefGoogle Scholar

Copyright information

© Association of Clinical Biochemists of India 2015

Authors and Affiliations

  1. 1.Department of BiochemistrySDM College of Medical Sciences and HospitalDharwadIndia
  2. 2.Department of RheumatologySDM College of Medical Sciences and HospitalDharwadIndia

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