United States


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3-Methylcrotonyl-CoA carboxylase: United States, January 6, 2013

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• Currently 48 states and the District of Columbia, representing approximately 96% of live births in the United States, screen for 3-Methylcrotonyl-CoA carboxylase. 
• 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

  • 3MCC = 3-Methylcrotonyl-CoA carboxylase deficiency
  • This defect in processing the amino acid leucine can lead to brain damage, seizures, liver failure and death in infancy or no symptoms at all into adulthood. Symptoms often develop following a childhood illness. Treatment with a low-protein diet and, in some cases, nutritional supplements may be helpful. (An abnormal result by newborn screening could be related to abnormal metabolites in the mother and not the baby. This will be clarified by further diagnostic testing of the infant.)

Source

  • National Newborn Screening and Genetics Resource Center.
  • Retrieved May 25, 2013, from www.marchofdimes.com/peristats.