What is the treatment for alkaptonuria?
Alkaptonuria is a lifelong disease. There is no cure for the condition. If alkaptonuria is diagnosed early on in life it is reasonable for patients to have a low-protein diet. This reduces the intake of amino acids phenylalanine and tyrosine, which in turn reduces the amount of homogentisic acid produced. Although not proven, this could potentially avoid or minimise complications later in life. Vitamin C has been found to slow down the conversion of homogentisic acid to the polymeric deposits in cartilage and bone. A dose of up to 1g/day is recommended for older children and adults. Nitisinone, an enzyme inhibitor that mediates the formation of homogentisic acid is being used in restricted experimental treatments. Life expectancy is normal although patients may be at increased risk of heart conditions and may require surgical treatments for spine, hip, knee and shoulder joint problems. Exogenous cutaneous ochronosis has been successfully treated by laser.
