Tyrosinemia Type II

Healthcare/Doctors

How do I find a center of excellence in Tyrosinemia Type II?

As of January 11, 2016, there are no centers for excellence in Tyrosinemia Type II. However, many medical centers with medical genetics experts can manage diseases with special nutritional needs, such as Tyrosinemia Type II. The American College of Medical Genetics has a search page on their web site ACMG where you can search for centers with biochemical geneticists, dieticians, and other professionals to manage the care of a person with Tyrosinemia Type II.

References
  • https://www.acmg.net/ACMG/Find_Genetic_Services/
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What specialist doctors should I see with Tyrosinemia Type II?

If I have Tyrosinemia Type II, what should my doctor know about managing the disease?

What specialist doctors should I see with Tyrosinemia Type II?

Specialists that people with Tyrosinemia Type II should see include:

  • Medical Geneticist
  • Genetic Counselor
  • Dietician
  • Ophthalmologist
  • Dermatologist
  • Developmental Pediatrician
References
  • http://www.babysfirsttest.org/newborn-screening/conditions/tyrosinemia-type-ii
  • Turk J Pediatr. 2011 Nov-Dec;53(6):692-4.Richner-Hanhart syndrome (tyrosinemia type II): a case report of delayed diagnosis with pseudodendritic corneal lesion.Iskeleli G1, Bilgeç MD, Arici C, Atalay E, O?reden T, Aydin A
  • Am J Ophthalmol. 2001 Oct;132(4):522-7.Tyrosinemia type II: nine cases of ocular signs and symptoms.Macsai MS1, Schwartz TL, Hinkle D, Hummel MB, Mulhern MG, Rootman D.
If I have Tyrosinemia Type II, what should my doctor know about managing the disease?

Starting a low-protein diet as soon as possible is very important for managing symptoms of this disorder. Many people with Tyrosinemia Type II are also prescribed nitisinone to help prevent symptoms. Follow-up with a dietician is necessary to make sure that the low-protein diet is being managed properly. Follow-up visits should include blood work to check levels of tyrosine in the blood and the correct dosage of nitisinone. Follow-up for symptoms should be handled as necessary.

References
  • http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=28378
  • http://www.babysfirsttest.org/newborn-screening/conditions/tyrosinemia-type-ii

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