Metabolic Genetics Clinic

Clinic Information

Referral & Scheduling:

813-259-8772
1-888-873-3627

Clinic Hours:

Tuesdays: 8:00AM to 4:00PM,
by appointment only.

Metabolic Diagnostic Clinic:
4th Monday of each month: 8:00AM to 4:00PM,
by appointment only.

Business Hours:

Monday-Friday: 8:00AM - 5:00PM

Location:

Children's Medical Services
13101 Bruce B. Downs Blvd.
Tampa, FL 33612
View Map

Correspondence:

Metabolic Genetics Clinic
University of South Florida
2 Tampa General Circle, 5th Floor 5053B
Tampa, FL 33606

About the Metabolic Genetics Clinic:

The Metabolic Genetics Clinic at the University of South Florida provides optimal care to pediatric and adult patients with inherited metabolic disorders. The clinic is open for evaluation of infants identified by newborn screening and others with metabolic disorders. We provide the following services to individuals with a metabolic disorder including diagnosis, genetic counseling, dietary management, and monitoring of metabolites. During the clinic visit, dietary management specific for each disorder is provided by a licensed dietician. Patients will meet with our licensed dietician who will provide dietary management based on the diagnosis and tailored for each patient.

Services are available for the following metabolic disorders:

  • Biotin metabolism disorders
    (biotinidase, holocarboxylase synthase)
  • Cobalamin disorders
  • Congenital lactic acidosis
  • Creatine biosynthesis disorders
    (GAMT, AGAT, creatine transporter deficiency)
  • Disorders of methyl transfer & sulfur amino acid metabolism
    (methylenetetrahydrofolate reductase deficiency - MTHFR; homocystinuria, sulfite oxidase deficiency, molybdenum cofactor deficiency)
  • Disorders of phenylalanine & tyrosine metabolism
    (PKU, hyperphenylalaninemia, maternal PKU syndrome, tyrosinemias)
  • Fatty acid oxidation disorders and ketogenesis disorders
    (carnitine disorders, VLCAD, LCHAD, MCAD, SCAD, GAII)
  • Galactosemia
  • Glycogen storage disease
  • Lipid storage disorders (Niemann-Pick)
  • Lysosomal storage disorders
    (MPS, Gaucher, Krabbe, Fabry)
  • Maple syrup urine disease
  • Non-ketotic hyperglycinemia
  • Organic acidurias (isovaleric aciduria, methylmalonic aciduria, propionic aciduria; glutaric aciduria, canavan)
  • Peroxisomal Disorders
  • Urea Cycle Disorders (argininemia; argininosuccinic aciduria; citrullinemia; ornithine transcarbamylase deficiency - OTC) or hyperammonemic syndromes
  • Metabolic Genetics Clinic Director:

    Amarilis Sanchez-Valle, MD
    Medical Director

    Kathleen Pope, MD