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CASE REPORT
Year : 2021  |  Volume : 5  |  Issue : 2  |  Page : 200-203

Alkaptonuria: A hereditary disease which is usually diagnosed in adulthood


Departments of Dermatology, Venereology and Leprosy, IGMC, Shimla, Himachal Pradesh, India

Correspondence Address:
Mudita Gupta
Department of Dermatology, Venereology and Leprosy, IGMC, Shimla, Himachal Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/CDR.CDR_63_20

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Alkaptonuria (AKU) is a multisystemic autosomal recessive disease due to deficiency of enzyme homogentisate dioxygenase leading to accumulation of homogentisic acid. Urine becoming dark on oxygenation or alkalinization is the first symptom but is often ignored. The patient usually presents with pigment deposition in connective tissue and cartilage after the third decade. This pigment deposition not only alters the aesthetics but also leads to alteration in the activity of different tissues due to inflammation and subsequent fibrosis or calcification. We are presenting an adult male who was asymptomatic till 5 years back when he started having backache for which he was taking analgesics off and was diagnosed to be having AKU at the age of 58 years.


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