273 top medical experts on Tyrosinemias across 41 countries and 20 U.S. states, including 104 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Tyrosinemias: A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features intellectual disability, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme tyrosine transaminase. Type III tyrosinemia features intellectual disability and is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3)
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Inborn Errors Amino Acid Metabolism (1,295), Inborn Metabolic Brain Diseases (1,358).
  4. Clinical Trials ClinicalTrials.gov : at least 14 including 1 Active, 9 Completed, 3 Recruiting
  5. Synonyms: 4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease,  Fumarylacetoacetase Deficiency Disease,  Tyrosine Transaminase Deficiency Disease


  

        

                    


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