ISSN : 2663-2187

Control of alkaptonuria with nitisinone and gene therapy: A systematic review

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Martin L. Nelwan
ยป doi: 10.33472/AFJBS.3.1.2021.19-33


Alkaptonuria (AKU) is a genetic disorder inherited in accordance with Mendel first law. Mutations in the HGA gene result in the AKU disorder. Three major features of this disorder: arthritis, ochronosis, and the presence of Homogentisic Acid (HGA) in the urine. The author searched the PubMed Databases at National Center for Biotechnology Information (NCBI) for articles on AKU published between 2014 and 2019

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