Alphabetic Guide to Child Care - Pku


PKU stands for phenylketonuria , an inherited metabolic defect. Approximately one baby in 10,000 is born with this disease, in which the body is incapable of producing certain enzymes that are essential for the metabolic conversion of the amino acid phenylalanine. The disorder causes the amino acid and some of its byproducts to accumulate in the bloodstream to a dangerous degree. If the condition goes undetected and untreated, irreversible brain damage and mental retardation are the result.

PKU babies are characteristically blond and blue-eyed, with sensitive skin and faulty muscle coordination. In many parts of the United States, state laws require that three days after birth, all babies be given the blood test that detects the presence of PKU so that treatment can begin at once if necessary. Supervised treatment usually continues for several years, and in some communities is available at special therapy centers. Parents or prospective parents who would like to find out whether any member of the family is a carrier of the recessive gene that transmits the PKU disorder can arrange for diagnostic testing and genetic counseling based on the results.

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