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

Abstract

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. All articles were open access and in English. In this systematic review, the author included one’s own references and other relevant publications. Search results showed that detection tools for people with AKU can include x-rays and genetic tests. No adequate treatment is available for AKU at present. However, counselors of genetic counseling may help patients with AKU and give counseling to them and their families. Candidate drugs of AKU are nitisinone and genetic manipulation techniques. Research results on the use of nitisinone on AKU have shown remarkable improvements. In the future, genetic manipulation techniques may be beneficial for treating AKU. These techniques are such as modified CRISPR/Cas9 (FokI-dCas9), End-Joining Homology Techniques (EJHTs) and induced Pluripotent Stem Cells (iPSCs).