Overcome Alkaptonuria

Abstract

Alkaptonuria (AKU) is an autosomal recessive inborn error metabolism resulting from deficiency of homogentisic acid oxidase (homogentisate 1, 2-dioxygenase) that is required in the metabolism of phenylalanine and tyrosine during the step when homogentisic acid is converted to maleylacetoacetate. AKU is a rare disease affecting approximately 1 in 250,000 people. In certain areas such as Jordan, parts of South India and Slovakia, AKU may be up to ten times higher. It is caused by mutations in the HGD gene. Treatment of AKU may be performed using drugs such as nitisinone and anti-inflammatories. Researches are underway using nitisinone in order to treat AKU. Other methods, which may be used to reduce alkaptonuria, are therapy gene and, of course, genetic counseling.

Keywords: Alkaptonuria, alcaptonuria, AKU, HGD