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Newborn screening begins for Tyrosinemia

2007-04-06 / LifeStyles

COLUMBIA - Newborn screening for the three known forms of Tyrosinemia began in South Carolina on April 2, according to the state Department of Health and Environmental Control.

"Tyrosinemias are genetic disorders found in a few babies born each year," said Kathy Tomashitis, director of DHEC's Pediatric Screening Follow up program.

Tomashitis said all babies will be screened for Tyrosine levels in their bloodspots submitted to DHEC's Bureau of Laboratories as part of the routine newborn screening program. With the additional test, DHEC now screens for all 28 core metabolic conditions recommended by the American College of Medical Genetics and the March of Dimes. Through a partnership with the genetics laboratory at the Mayo Clinic, babies with elevated levels of Tyrosine will have a secondary screening test for succinylacetone, a compound found only in babies with the most severe form of Tyrosinemia.

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