Control of Alkaptonuria with Nitisinone and Gene Therapy: A Systematic Review
16 Pages Posted: 28 May 2019
Date Written: May 1, 2019
Alkaptonuria (AKU) is a genetic disorder inherited in accordance to 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 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 the author’s references and other relevant publications. 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 patients 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 immurements. In the future, genetic manipulation techniques may be beneficial for treating AKU. These techniques are such as end-joining homology techniques (EJHTs) and induced pluripotent stem cells (iPSCs).
Keywords: Alkaptonuria, Alcaptonuria, AKU, HGA, HGD
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