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Methylmalonic acidemia due to mutase deficiency: United States, January 6, 2013
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• Currently all states in the United States screen for Methylmalonic acidemia due to mutase deficiency. 
• 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

  • MUT = Methylmalonic acidemia due to mutase deficiency
  • A defect in the processing of four essential amino acids and other substances results in illness in the first week of life. Though severity of symptoms varies greatly, death during the first month of life and brain damage in survivors is common. Treatment includes a low-protein diet, vitamin B12 injections, and nutritional supplements. Some children die during the first year of life or develop brain damage despite nutritional intervention.

Source

  • National Newborn Screening and Genetics Resource Center.
  • Retrieved May 21, 2013, from www.marchofdimes.com/peristats.