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The PKU (phenyketonuria) test that your baby received by law in the nursery screens for a preventable form of mental retardation which must be identified and for which proper treatment must be instituted in the first few days of life, or the affected child will suffer irreversible brain damage and retardation.
The disease is caused by a defective gene which regulates metabolism of the amino acid phenylalanine. A transitional chemical substance formed as one of the steps in the processing of phenylalanine (an "intermediary metabolite") builds up in the bloodstream because the enzyme that is supposed to convert it into the next chemical in the chain of conversion is defective. This substance in high levels is toxic to the developing brain.
The treatment of the disease once identified is dietary. The baby is given a special diet very low in phenyalanine (initially Lofenalac® formula). Growth and development and intellectual capacity are then normal. A special diet is continued for life.