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Utah’s first Guanidinoacetate methyltransferase (GAMT) deficiency diagnosis through its newborn screening program today could spur the creation of similar testing in other states. According to Kim Hart, Program Director for the Newborn Screening Program at the Utah Department of Health, other states are likely to look to Utah’s success and implement their own newborn GAMT screening requirements. Utah was the first out of three states to require GAMT deficiency screening for newborns.
A rare disorder that inhibits the body’s ability to produce creatine, GAMPT causes low creatine levels can lead to intellectual disabilities such as limited speech development, seizures and autistic-like behavior. It is also treatable, especially if detected early, according to Dr. Nicola Longo, professor of Pediatrics and Chief of the Division of Medical Genetics at the University of Utah.