Alkaptonuria

Treatment

Is there a treatment(s) for Alkaptonuria?

Current treatment is aimed at specific symptoms of Alkaptonuria. Such as:

  • Pain management for joint pain is necessary
  • Physical and occupational therapy to promote muscle strength and flexibility
  • Knee, hip, and shoulder replacement surgeries can be considered to treat arthritis
  • Prostate and renal stones may need to be surgically removed
  • Valve replacement may be necessary in individuals with aortic stenosis
  • Avoidance of strenuous sports or physical work is recommended to reduce the impact on the spine and joints

There is also another treatment under study for Alkaptonuria as of May 2019. This investigational medication is Nitisinone, a drug that was originally approved by the FDA to treat another condition, Tyrosinemia Type I. Tyrosinemia is caused by a deficiency of a different enzyme in the same pathway that causes Alkaptonuria. Research has shown that nitisinone is an effective at preventing the buildup of homogentisic acid in the body. This drug caused elevated tyrosine levels in the blood. Theoretically, neurological complications associated with tyrosinemia may occur. Current research is focused on looking at long term use of nitisinone in people with alkaptonuria and the use of nitisinone in children with alkaptonuria.

References
  • Introne WJ, Perry MB, Troendle J, Tsilou E, Kayser MA, Suwannarat P, O'Brien KE, Bryant J, Sachdev V, Reynolds JC, Moylan E, Bernardini I, Gahl WA. A 3-year randomized therapeutic trial of nitisinone in alkaptonuria. Mol Genet Metab. 2011;103:307?14.
  • http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3148330/
  • Introne WJ, Gahl WA. Alkaptonuria. 2003 May 9 [Updated 2016 May 12]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1454/
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Are there other organ specific treatments/symptoms specific concomitant treatments for Alkaptonuria?

Are there other organ specific treatments/symptoms specific concomitant treatments for Alkaptonuria?

Symptom specific treatments for Alkaptonuria include:

  • Pain management for joint pain is necessary
  • Physical and occupational therapy to promote muscle strength and flexibility
  • Knee, hip, and shoulder replacement surgeries can be considered to treat arthritis
  • Prostate and renal stones may need to be surgically removed
  • Valve replacement may be necessary in individuals with aortic stenosis
  • Avoidance of strenuous sports or physical work is recommended to reduce the impact on the spine and joints
  • Maintain joint range of motion through non-weight bearing exercise such as swimming
References
  • http://www.ncbi.nlm.nih.gov/books/NBK1454/
  • Introne WJ, Gahl WA. Alkaptonuria. 2003 May 9 [Updated 2016 May 12]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1454/

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