Treatment of children and adults with PKU consists of dietary restriction of phenylalanine (phe), beginning within the first few weeks of life and continued throughout life. Since phe is an essential amino acid, it should not be totally eliminated from the diet. Close monitoring of blood phe levels and adjustments in diet when indicated are necessary to ensure that the appropriate level of phe is established and maintained. The frequency of phe monitoring is determined on an individual basis.
The State Department of Health Services, Genetic Disease Screening Program provides phe monitoring for individuals with PKU who receive treatment at one of the California Children Services(CCS)-Approved Metabolic Centers. The Metabolic Center arranges for the blood collection on the State provided specimen collection form (test request form and blood collection card). The dry blood spot specimen is then sent to the Genetic Disease Laboratory in Richmond, California for testing. Results are report back to the ordering physician at the Metabolic Center. There is no charge for this service.
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