PKU, or phenylketonuria , is the genetic disorder wherein the body is unable to properly metabolize the amino acid phenylalanine. The disease is routinely screened for in newborns in the United States, but without treatment it can cause lighter skin and eyes (and even albinism), musty body odor, jerky arm or leg movements, seizures, skin rashes, microcephaly, developmental delays, impaired social skills, and behavioral issues. Read More.
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