Division of Clinical and Translational Genetics : Dietitian Services

Dietitian Services For Genetic Diseases

Dietitian: Stephanie Hacker, M.S., RD/N, LD/N

The dietitian will provide individualized plans of dietary treatment plan for every patient who has a confirmed diagnosis of an inborn error of metabolism that is managed by diet. This includes disorders of amino acid, intermediary, fat and carbohydrate metabolism. The dietitian will evaluate the patient’s current nutritional status, obtain nutrition history from patient/parents, and develop dietary treatment plans by correlating blood levels with intake of target nutrients. In addition, extensive nutrition education and counseling during routine outpatient visits, including hands on diet and formula preparation instruction will be provided.

The following inborn errors of metabolism are typically treated by a specialized diet:

  • Disorders of amino acid metabolism: Phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD), Homocystinuria, Citrullinemia, Tyrosinemia,types I-III, Arginase deficiency

  • Disorders of intermediary metabolism: Methylmalonic acidemia (MMA), Propionic Acidemia (PA), Isovaleric acidemia (IVA), Glutaric Aciduria Type 1 and 2 (GA1, GA2)
  • Fatty Acid Oxidation Disorders (FAOD): Medium chain acyl CoA dehydrogenase (MCAD) deficiency, Very long chain acylCoA dehydrogenase (VLCAD) deficiency and others
  • Disorders of carbohydrate metabolism: Galactosemia, Hereditary fructose intolerance
  • For further information contact:

Stephanie Hacker, M.S., RD/N, LD/N

Tel: (305) 243-9701
E-mail: Ms. Stephanie Hacker

The Stella M. Copulos Nutritional Education Room
The Stella M. Copulos, MS, RD, LD/N Nutritional Education Room was established by the Copulos family in loving memory of their beloved wife, mother, and grandmother, Stella, who received her B.S. in Dietetics and Institutional Management from the University of Miami in 1958 and her Masters Degree in Institutional Management from Florida International University in 1975
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