| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5653313 | Journal of Clinical Orthopaedics and Trauma | 2017 | 4 Pages |
Abstract
Alkaptonuria is a rare inherited metabolic disorder, caused by the deficiency of homogentisate 1,2 dioxygenase enzyme. The three major features of alkaptonuria are the presence of homogentisic acid in urine, ochronosis (bluish-black pigmentation in connective tissue) and arthritis of the spine and large joints.We present a 48 years old female presented with pain, restriction of movements of right shoulder. Arthroscopy was suggestive of ochronotic arthropathy. The definitive diagnosis of ochronosis was subsequently confirmed by laboratory and pathologic evaluation.
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Authors
Prateek Kumar Gupta, Ashis Acharya, Dhananjay sabat, Amit Mourya,