United States


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Homocystinuria: United States, January 6, 2013

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• Currently all states in the United States screen for Homocystinuria. 
• 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

  • HCY = Homocystinuria
  • Individuals with this disorder lack an enzyme responsible for converting the amino acid homocysteine into cystathionine, which is needed for normal brain development. If undetected and untreated, homocystinuria leads to mental retardation, eye problems, skeletal abnormalities, and stroke. Treatment consists of a special diet, one or more vitamins (B6 or B12), and other supplements (betaine).

Source

  • National Newborn Screening and Genetics Resource Center.
  • Retrieved June 19, 2013, from www.marchofdimes.com/peristats.