United States


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Tyrosinemia type 1: United States, January 6, 2013

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• Currently 48 states and the District of Columbia, representing approximately 95% of live births in the United States, screen for Tyrosinemia type 1. 
• In the United States, screening for the 31 core newborn screening conditions is not universally required by rule or law and fully implemented in any state. 

Footnotes

  • TYR I = Tyrosinemia type I
  • Due to absence of an enzyme, byproducts of the amino acid tyrosine, particularly a very toxic compound called succinylacetone, build up in the liver. Without treatment, symptoms generally begin in the first few weeks or months of life and progress to liver or kidney failure, nerve damage and death. Drug treatment, sometimes along with a low-protein diet, is very effective in preventing liver and kidney damage.

Source

  • National Newborn Screening and Genetics Resource Center.
  • Retrieved May 18, 2013, from www.marchofdimes.com/peristats.