• Users Online: 291
  • Home
  • Print this page
  • Email this page
Home About us Editorial board Ahead of print Current issue Search Archives Submit article Instructions Subscribe Contacts Login 
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
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/CDR.CDR_63_20

Rights and Permissions

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.

Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded21    
    Comments [Add]    

Recommend this journal