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


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.


Alkaptonuria Ochronosis Homogentisic acid Black urine Tyrosine 



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.


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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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