ABSTRACT
Phenylketonuria (PKU) was discovered by Foiling in Norway in 1934, as an abnormally high concentration of urine phenylpyruvic acid, or phenylketone, inherited from both parents by Mendelian inheritance with a 1/4 chance of occurrence in each offspring. In the mid 1950's, Dr. Willard Centerwall pushed for urine screening of infants' wet diapers with the FeCl test for PKU. Large programs were organized in various countries; but results were very disappointing, although some infants were discovered and treatment started within the first year of life. A practical electrophoresis method of using the newborn dried blood spot specimen in mass screening for sickle cell hemoglobin and other hemoglobin variants has been developed by Dr. Michael Garrick in their laboratory(ll). Based on estimated costs of screening using centralized automated laboratories. Allowance for sample collection is included in cost of PKU screening.
