How do I find a center of excellence in Alkaptonuria?

There are no centers of excellence for Alkaptonuria in the United States that we are aware of as of May 2019.

There is currently one center of excellence for Alkaptonuria in Liverpool, England. The Robert Gregory National Alkaptonuria Centre is home to a team that specializes in treating people with Alkaptonuria:

The Alkaptonuria Society also provides the opportunity to contact an expert: . If you are looking for a metabolic clinic for treatment in the United States, you can search for the clinic or clinics in your state.

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What specialist doctors should I see with Alkaptonuria?

If I have Alkaptonuria, what should my doctor know about managing the disease?

What specialist doctors should I see with Alkaptonuria?

Specialist for Alkaptonuria include:

  • Orthopedics (bone doctor)
  • Ophthalmologist (eye doctor)
  • Cardiologist for people over 40 years of age (heart doctor)
  • Medical geneticist (genetic doctor)
  • Urologist as needed (kidney doctor)
  • 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:
If I have Alkaptonuria, what should my doctor know about managing the disease?

Upon diagnosis of Alkaptonuria, the following exams should be performed to establish the extent of disease:

  • Twenty-four hour urine collection to determine amount of HGA
  • Physical exam to determine range of motion in the spine and large joints
  • Physical therapy and rehabilitation evaluation if range is limited
  • Ophthalmologic evaluation
  • EKG and Echocardiogram for people over 40 years of age
  • Renal ultrasound or abdominal CT to evaluate for renal calcification
  • Medical genetics consult

These treatments may be useful once the extent of Alkaptonuria has been determined:

  • Plan for pain management and close follow-up
  • Physical and occupational therapy as needed
  • Cadiac evaluation every 1-2 years after the age of 40, including echocardiography and CT scans
  • Urology surveillance is not a routine recommendation. However, urologic complications become more prevalent after 40 years of age and individuals should be aware of the potential complications.

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