Phenylketonuria: Approach to Care

The Division of Genetics and Metabolism offers treatment for children and adults living in North Central Florida who have phenylketonuria (PKU). The division’s metabolic nutritionists coordinate the patient’s care and nutritional therapy along with overview by our physician clinical geneticists. We monitor metabolic control through periodic blood phenylalanine testing which is done by collecting blood spots at home and mailing them to either the state laboratory or other appropriate laboratories.  After each blood phenylalanine test, the current diet is evaluated and individualized nutritional counseling is given (often via telephone follow-up) with the goal of maintaining blood phenylalanine levels in the optimal treatment range while also ensuring adequate nutrient intake. In addition to the phenylalanine restricted diet, we also treat patients with tetrahydrobiopterin supplementation or with large neutral amino acids, if these therapies are warranted.