A review on alkaptonuria

Abstract

An unusual condition with autosomal recessive inheritance is Alkaptonuria (AKU). It is caused by a mutation in a gene that results in homogentisic acid accumulation (HGA). Characteristically, excess HGA means that sufferers move through dark urine, which turns black while standing. This is a trait that is present from birth. Over time, patients experience other AKU symptoms due to collagenous tissue deposition of HGA, including ochronosis and ochronotic osteoarthropathy. While this disease does not decrease life expectancy, the quality of life is greatly affected by it. Despite gaps in understanding, the natural history of this disease is becoming better known. Along with the introduction of a potentially diseasemodifying treatment, clinical evaluation of the disorder has also increased. In addition, recent advances in AKU science have contributed to a new understanding of the condition and further research of AKU arthropathy have the ability to affect osteoarthritis management therapy.