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Review Article
Volume 2, Article ID: 2025.0019
Abhishek Vijukumar
2216730@isfcp.org
Kamaljeet
2116957@isfcp.org
Harkomal Singh
harkomalsingh1993@gmail.com
Tarun Kalra
tarunkalra222@gmail.com
Bintoo Sharma
bintoo1053ps.phd25@chitkara.edu.in
1 Department of Pharmacy Practice, ISF College of Pharmacy, Moga, Punjab, 142001, India
2 Department of Pharmacy Practice, Chitkara College of Pharmacy, Chitkara University, Rajpura, (Punjab) India
* Author to whom correspondence should be addressed
Received: 25 Jul 2025 Accepted: 22 Dec 2025 Available Online: 23 Dec 2025
Alkaptonuria is believed to be a rare autosomal recessive disease caused by an imbalance in homogentisate 1,2 dioxygenase (HGD). HGA builds up in the body when the HGD enzyme isn't working correctly, despite the kidneys' ability to frequently remove it. The diagnosis of AKU may not occur until the ochronotic arthropathy manifests, which usually happens in adulthood. There is a paucity of information on the condition's early stages and infancy. The development of a dark color formation in urine, dried urine spot (DUS), immunofluorescence, Thioflavin T (Th-T) staining, Congo Red (CR) staining, and transmission electron microscopy (TEM) may all be used to detect this. Ascorbic acid, phenylalanine and tyrosine diet restrictions, and the only medication approved by the European Medicine Agency as the first disease-modifying treatment for individuals with AKU is nitisinone, which has demonstrated promise as an additional treatment for alkaptonuria.
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