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Phenylketonuria. Experience at one center in the first year of screening in California
Insights
California
Area of Science:
- Medical Genetics
- Pediatrics
- Public Health
Background:
- Phenylketonuria (PKU) is a serious metabolic disorder.
- Newborn screening aims for early detection and intervention.
Purpose of the Study:
- To review the first year of compulsory newborn screening for PKU in California (1966).
- To assess the prevalence and outcomes of detected PKU cases.
Main Methods:
- Retrospective review of screening and diagnostic data from 1966.
- Evaluation of infants and children suspected of or diagnosed with PKU.
Main Results:
- Overall PKU prevalence was 1 in 19,500 in California.
- 25 individuals were diagnosed with PKU; 11 were infants identified via newborn screening.
- Newborns identified with PKU showed normal development in short-term follow-up.
Conclusions:
- Newborn screening for PKU is highly beneficial for early identification.
- Early detection allows timely treatment to prevent intellectual disability.
- Management requires specialized pediatric, biochemical, and nutritional surveillance.
Abstract:
One year's experience with phenylketonuria during the calendar year 1966, the first year for compulsory newborn screening in California, was reviewed. The over-all prevalence rate from reported cases in California during this period was one case per 19,500 persons tested. Fifty-seven persons suspected of having pku were evaluated, and 25 of them were determined to be phenylketonuric. Eleven of the 25 were infants in whom the abnormality was detected through the newborn screening program or because it was detected in a sibling through a screening program. All the newborn phenylketonuric patients were developing normally at the time of last report (although the follow-up periods were short). In nine of the other children, pku was detected because they were retarded. Five retarded children who were diagnosed as phenylketonuric at another clinic were given dietary assistance. Five additional infants had elevated serum phenylalanines but did not have the classic biochemical findings of pku and are being evaluated further. Nine infants with positive screening tests exhibited biochemical and clinical findings consistent with transient tyrosinemia. Eighteen other children were evaluated and found to have no metabolic abnormality. The newborn screening program for pku is of decided benefit in early identification of a group of infants who have a high rate of potentially serious metabolic disease. Early identification permits treatment soon enough to prevent mental retardation. Newly identified patients should be evaluated in a medical setting capable of careful pediatric, biochemical and nutritional surveillance.