Alkaptonuria (Black Urine Disease) Medication

Updated: Mar 18, 2021
  • Author: Karl S Roth, MD; Chief Editor: Maria Descartes, MD  more...
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Medication Summary

Nitisinone is now known to be useful in managing alkaptonuria. Vitamin C, as much as 1 g/d, is also recommended for older children and adults. [10, 11, 22]



Class Summary

Organic substances required by the body in small amounts for various metabolic processes.

Ascorbic acid (Cecon, Cevalin, Cevi-Bid, Ce-Vi-Sol)

The mild antioxidant nature of ascorbic acid helps to retard the process of conversion of homogentisate to the polymeric material that is deposited in cartilaginous tissues.


Enzyme inhibitors

Class Summary

Nitisinone, a tyrosine degradation inhibitor, has been used experimentally.

Nitisinone (Orfadin)

This compound has, until recently seen very restricted use in experimental treatment for alkaptonuria. Tyrosine degradation inhibitor. Inhibits 4-hydroxyphenylpyruvate dioxygenase, which mediates formation of homogentisic acid. Its clinical use has now been shown to be safe and effective.