No treatment modality has been unequivocally demonstrated to reduce the complications of<unk> . Main treatment attempts have focused on preventing ochronosis through the reduction of accumulating homogentisic acid. Such commonly recommended treatments include large doses of ascorbic acid (vitamin C) or dietary restriction of amino acids phenylalanine and tyrosine. However, vitamin C treatment does not have definitively proven effectiveness and protein restriction (which can be difficult to adhere to) has not shown to be effective in clinical studies. Several studies have suggested that the herbicide nitisinone may be effective in the treatment of<unk> . Nitisinone inhibits the enzyme 4-hydroxyphenylpyruvate dioxygenase, responsible for converting tyrosine to homogentisic acid, thereby blocking the production and accumulation of HGA. Nitisinone has been used for some time at much higher doses in the treatment of type I tyrosinemia. Nitisinone treatment has been shown to cause a larger than 95% reduction in plasma and urinary HGA. The main drawback is accumulation of tyrosine, the long-term risks of which are unknown; a particular concern exists about damage to the cornea of the eye. Long-term use requires frequent monitoring for complications.
Alkaptonuria
Hawkinsinuria
Orotic aciduria
Cystathioninuria
Aspartylglucosaminuria
Homocystinuria
Urocanic aciduria
Glycosuria