Inspired by his mentally disabled son, Robert Guthrie, MD, PhD, became a tireless advocate for individuals with intellectual handicaps. He devoted much of his career to researching the prevention of ...

PKU can only be treated through a strict, life-long, low-protein (low-Phe) dietetic treatment combined with a daily assumption of low-protein modified foods and medical food, which provides Phe-free ...

PKU testing began in Nebraska in 1967. Primary congenital hypothyroidism was added in 1979 and biotinidase disorder in 1987. Other conditions have been added as testing and treatments have advanced, ...

Babies get tested for many things right after they are born. The heel prick includes a test for phenylketonuria (PKU), a rare birth defect that causes a certain amino acid to build up in the body. Dr.

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PTC Therapeutics Canada ULC announced that Health Canada has approved Sephience™ (sepiapterin) for the treatment of children and adults living with phenylketonuria (PKU). The approval includes broad ...

—Researchers in Germany recently analyzed several parameters related to bone metabolism in plasma, serum, and urine—as well as tracked dietary habits and lifestyle factors—in a cohort of adults with ...

California families will soon be able to have their newborns tested for up to 30 rare metabolic disorders, a screening that, in some cases, may make the difference between normal development and death ...