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

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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.

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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.

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Authors and Affiliations

  1. Department of Biochemistry, SDM College of Medical Sciences and Hospital, Dharwad, Karnataka, India

    Dhiraj J. Trivedi

  2. Department of Rheumatology, SDM College of Medical Sciences and Hospital, Dharwad, Karnataka, India

    Vikram Haridas

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  1. Dhiraj J. Trivedi
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  2. Vikram Haridas
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Correspondence to Dhiraj J. Trivedi.

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Trivedi, D.J., Haridas, V. Five Cases of Alkaptonuria Among Two Generations of Single Family in Dharwad, Karnataka (India). Ind J Clin Biochem 30, 479–484 (2015). https://doi.org/10.1007/s12291-015-0488-y

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  • DOI: https://doi.org/10.1007/s12291-015-0488-y

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