Specialized Care for Metabolic Disorders

The Arnold Palmer Hospital Metabolic Genetics Clinic provides testing and management for children with a known or suspected inherited metabolic disorder. Our specialized team also diagnoses and manages patients with lysosomal storage disorders and coordinates enzyme replacement therapy when indicated.

The majority of our patients are identified by newborn screenings, but we also accept new pediatric metabolic patient referrals.

Some of the most common conditions seen in our clinic include, but are not limited to:

  • Fatty acid oxidation disorders (VLCADD, MCADD, etc.)
  • Galactosemias
  • Glycogen storage disorders
  • Aminoacidemias (PKU, MSUD, etc.)
  • Organic acidemias
  • Urea cycle disorders 

Services

Our Metabolic Genetics Clinic has over 20 years of experience treating patients in Central Florida. Our specialized team is led by a physician board-certified in medical biochemical genetics and a specialized registered dietitian. The team also includes an advanced registered nurse practitioner, board-certified genetic counselors, a certified pediatric registered nurse, and medical staff. 

Services include:

  • Evaluation and testing for children with known or suspected inborn errors of metabolism
  • Genetic counseling and education about the condition
  • Personalized nutrition plans by our registered dietitian who specializes in the treatment of metabolic disorders
  • Medication and strategies for life-long management

For more information or to schedule an appointment, call (407) 648-7802.