Tyrosinemia Type I

Healthcare/Doctors

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

To find a metabolic dietitian specializing in dietary treatment for people with tyrosinemia, visit the GMDI Find a Metabolic Dietitian webpage.

To find a genetic professional near you visit the following two sites: A listing of medical geneticists can be found at the American College of Medical Geneticists website (www.acmg.net) and genetic counselors can be found on the National Society of Genetic Counselors website: www.nsgc.org.

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What specialist doctors should I see with Tyrosinemia?

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

What specialist doctors should I see with Tyrosinemia?

Specialists for individuals with Tyrosinemia Type I include:

  • Medical geneticist
  • Genetic Counselor
  • Dietician
If I have Tyrosinemia Type I, what should my doctor know about managing the disease?

Initial evaluation of someone with Tyrosinemia Type I should include: CBC blood test, baseline abdominal imaging by CT or MRI with contrast to evaluate for liver adenomas or nodules and renal size, X-ray of wrist to document presence or absence of rickets, and a medical genetics consultation.

Nitisinone and a low-protein diet should be started immediately. Annual imaging of the liver should be done to look for any changes. Renal studies and skeletal studies should be done as needed. CBC and liver enzymes should be checked annually. Complete guidelines can be found at http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3558375/.

References
  • de Laet C, Dionisi-Vici C, Leonard JV, McKiernan P, Mitchell G, Monti L, de Baulny HO, Pintos-Morell G, Spiekerkötter U. Recommendations for the management of tyrosinaemia type 1. Orphanet J Rare Dis. 2013;2013;8:8.

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