Division of Genetics and Metabolism
PKU Program

Our division offers treatment for children and adults living in North Central Florida who have phenylketonuria (PKU). The division’s two 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 Kuvan® (tetrahydrobiopterin) or large neutral amino acids, if these therapies are warranted.

We see patients with PKU in the Gainesville genetics clinic and in our satellite clinics in Orlando, Tallahassee, Panama City and Pensacola. We also see patients in Panama City and Pensacola through our Gainesville-based telemedicine program.  At clinic visits, in addition to nutritional assessment and physical examination, we provide nutrition education and often have cooking demonstrations.  We also try to have one PKU event per year and in the past have brought in low protein chefs who have given hands-on cooking classes.

For more information, contact Lindsay Raub or Krista Mantay

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