Treatment
Treatment of ochronosis includes:
- most patients are symptomatic and do not require treatment
- tyrosine and phenylalanine dietary restrictions have been successful for phenylketonuria treatment though it is particularly hard to accomplish, and efficacy is similar to vitamin C megadosing.(1)
- large joints and heart valves may need replacing
Nitisinone, approved as first-line treatment for the closely related disease, hereditary tyrosinemia, is the only intervention proven to modify disease progression. As such, it is the mainstay of treatment, although its use should be judicious and carefully watched. (2)
Recent advancements in photobiomodulation and photodynamic therapy are new therapies.(3)
Reference
- Judd S et al. The nutritional status of people with alkaptonuria: An exploratory analysis suggests a protein/energy dilemma. JIMD Rep. 2020 May;53(1):45-60
- Ranganath LR, Jarvis JC, Gallagher JA. Recent advances in management of alkaptonuria (invited review; best practice article). J Clin Pathol. 2013 May;66(5):367-73.
- Bhattar PA et al. Exogenous Ochronosis. Indian J Dermatol. 2015 Nov-Dec;60(6):537-43.
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