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PKU Research

Fairfield, Ohio

Cause Description:
PKU is a genetic disorder that is diagnosed with the heel prick test 24 hours after birth. Phenylketonuria (PKU) is a rare inherited metabolic disorder in which individuals with the disease are born without an enzyme necessary for processing a particular protein (phenylalanine, a.k.a. PHE). If untreated, high levels of PHE can effect brain development resulting in mental retardation and neurological disorders. The only effective treatment is for individuals to adhere to a strict, low protein diet, consisting mostly of fruits and vegetables and special low protein medical foods. Individuals with PKU are not able to eat many of the foods we take for granted. Such high protein foods include meat, fish, poultry, dairy, nuts, eggs and baked goods that contain gluten. All food items eaten by a person with PKU should be weighed and monitored to ensure that the PHE levels are within the appropriate range. Individuals with PKU must also have their PHE levels monitored with periodic blood tests, drink a supplementing formula and meet with Drs and Dieticians, their entire lives.

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