PEDIATRICS Vol. 63 No. 2 February 1979, pp. 334-336
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Delayed Elevation of Serum Phenylalanine Level in a Breast-Fed Child

John Binder M.D.1, Charles F. Johnson M.D.1, Beverly Saboe R.N., M.N.1, and Susan Krug-Wispe M.S., R.D.1

1 Child Development Clinic, University of Iowa Hospitals, Iowa City

Phenylketonuria (PKU) is an autosomal recessive disorder that causes mental retardation if not treated. Treatment consists of a low phenylalanine diet. If the diet is instituted prior to 3 to 4 weeks of age, the child can be expected to develop within the normal range.1 Early detection of PKU is therefore necessary to institute dietary therapy before harmful effects begin. In Iowa, state public policy specifies that a blood test for phenylalanine must be done on an infant prior to discharge from the hospital and again at 4 weeks of age.2

To diagnose PKU, the National Collaborative Study of Children Treated for Phenylketonuria requires that two serum phenylalanine levels of greater than 20 mg/dl be obtained.