The Detection and Diagnosis of Phenylketonuria

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Abstract
In the past 3 years 15 children with phenylpyruvic oligophrenia have been recognized in the Pediatric Clinic where a large number of mentally deficient children are seen. In some children a history of other presumed causes of brain injury may disguise the basic metabolic defect. Also, the inability to obtain urine specimens during the clinic visit may permit affected patients to escape detection. The method of testing is simple using ferric chloride solution but technical errors or misinterpretation of results may occur. Phenistix, a commercially available ferric chloride impregnated paper strip is readily interpreted by professional and lay persons. When urine is unavailable during the regular clinic visits a "PKU Kit" is sent home with the parents. This consists of an instruction sheet with an attached Phenistix and "positive" or "negative" results are reported on the enclosed postcard. Simplicity also permits their use in surveys of state institutions where urine collection may be difficult. It is important that all neurologically handicapped children be routinely tested. This should include all residents of state mental institutions. The recognition of all older affected children will direct attention to younger and newborn siblings. To date virtually all reported infants treated early in life with a low phenylalanine diet have had an affected sibling. Although the emphasis at the moment should be on the "high risk" population physicians should also be encouraged to routinely test all infants during well baby examinations especially in the first 6 months. We have been able to identify 45 individuals with phenylketonuria in the first 3 years of this study.

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