Uĉinky nizko proteinovej diety a vitaminu C na koncentraciu kyseliny homogentisovej vo vzorkach moĉu pri alkaptontjrii

Alkaptonuria (AKU) is an autosomal recessive disorder caused by a deficiency of homogentisate 1,2-dioxygenase (HGD) and characterized by homogentisic aciduria, ochronosis, and arthritis. Several treatment options have been proposed, however, there is no successful therapy for management of AKU yet. The aim of this study was to investigate the effects of low protein diet, Vitamin C therapy (1 g/day) on the urinary concentrations of homogentisic acid (HGA) in AKU patients. Urinary HGA concentrations were measured in ten AKU patients using spectrophotometric method. Our results showed that low protein diet and Vitamin C reduced the urinary HGA excretion. The percentage of reduction in HGA concentrations by low protein diet, Vitamin C and combination of both were 41.4 - 74.5 %, 23 - 32 %, and 73.5 - 86.7 %, respectively. Combination of dietary protein restriction and Vitamin C resulted in the highest reduction in HGA excretion. Further studies using a larger number of AKU patients are warranted to determine the long-term effects of low-protein diet and Vitamin C on HGA concentrations, deposition of ochronotic pigment, and clinical symptoms of AKU.