Our division serves at the regional center for referral of newborns identified through neonatal blood spot screening who have a presumptive diagnosis of an inborn error of metabolism. Florida screens every newborn for more than 35 inherited metabolic and/or genetic conditions.
Clinical dietitians work with the metabolic physicians in establishing appropriate nutrition therapies for children and adults with metabolic disorders. The dietitians coordinate the nutrition management of individuals who have metabolic disorders such as urea cycle defects, amino acidemias, fatty acid oxidation disorders and organic acidemias. Children with metabolic problems are seen by the dietitians during hospital admissions and in outpatient clinics at the University of Florida or in satellite clinics throughout north and central Florida. In addition, laboratory monitoring and diet modification occurs between clinic visits.
Our division offers treatment for children and adults living in North Central Florida who have phenylketonuria (PKU). The division’s three 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 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 Tallahassee and Pensacola via 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 we have brought in low protein chefs who gave hands-on cooking classes.
For more information, contact one of our dietitians: Krista Mantay, Alexa Bledsoe, or Anna McGuinness.