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Indian Journal of Clinical Biochemistry

, Volume 31, Issue 3, pp 353–356 | Cite as

Alkaptonuria: A Case of Familial Inheritance from Hangarki Village in Dharwad District of Karnataka

  • Dhiraj J. TrivediEmail author
  • Prashanth Naik
Case Report
  • 78 Downloads

Abstract

Alkaptonuria is a genetic disorder, unknown to the general public and ignored by general physicians due to lack of awareness of its high prevalence. Increasing incidences of familial inheritance are recorded. A 41 years 8 months male with the swollen knee, chronic mechanical pain, restricted limping walk and tingling sensation in the limb. Also, has a complaint of the stiffness of back in the morning, which gets relieved by movement. Mild hyper pigmentation of pinna and sclera of eye. X-ray report reveals osteoarthritis of the knee and thoracic kyphosis. After considering clinical finding, report of radiological investigation and Biochemical test results, patient was diagnosed as a case of Alkaptonuria. Screening of entire family revealed a typical case of familial inheritance. Hidden familial inheritance can be disclosed by mass screening of families and medical awareness.

Keywords

Alkaptonuria Homogentisic acid Black urine Familial inheritance 

Notes

Acknowledgments

This study is purely a self funded study, approved by the institutional ethical committee. The sample used for the study was Urine, which was collected from all the participants of the study after explaining and taking their consent.

Compliance with Ethical Standards

Conflict of interest

The authors of this case report have declared that they have no conflict of interest.

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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 OrthopedicSDM College of Medical Sciences and HospitalDharwadIndia

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