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Metabolic Genetics


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Most inborn errors of metabolism are diagnosed through newborn screening tests. Every newborn should go through these blood tests within hours of birth. We are one of the three newborn screening referral centers in the state of Florida. This means that if your baby is screened positive for one the disorders on the screening list, our expert clinical geneticists will evaluate your child and provide the most appropriate treatment immediately.

At the Metabolic Genetics Clinics at the University of Miami Health System, we provide diagnosis, clinical care, education, and case management to individuals and families diagnosed with inborn errors of metabolism.

Metabolic genetic conditions include:

  • Disorders of Amino Acid Metabolism
  • Disorders of Carbohydrate Metabolism
  • Disorders of Fatty Acid Oxidation
  • Disorders of Vitamin and Cofactor
  • Metabolism
  • Organic Acidemias
  • Energy Metabolism Disorders
  • Urea Cycle Disorders
  • Storage Disorders
  • Other metabolic conditions

What happens at my metabolic genetics appointment?

Visits typically include a comprehensive medical history, physical exam, developmental, educational, and psychological evaluations, and a nutritional assessment (if needed). Conditions are diagnosed using biochemical and molecular testing, when needed. Analysis of current treatment, laboratory findings, and a review of the recommended healthcare guidelines for specific conditions are provided.

The mission of the University of Miami’s Metabolic Genetics Clinic is to provide outstanding comprehensive care and treatment to individuals affected by inborn errors of metabolism.

We offer patients and families:

  • education
  • genetic counseling
  • compassion
  • support services
  • referrals to other specialists and community programs

Contact us

Newborn Screen Questions (8 a.m. – 5 p.m.)
Corine Orr, LPN
Phone: 305-243-9633
Fax: 305-243-7994

Metabolic Genetics Questions (8 a.m. – 5 p.m.)
Stephanie Hacker, RD
Phone: 305-243-9701
Fax: 305-243-3919

Why choose UHealth?

A multidisciplinary team of experts. Your team includes a clinical geneticist, metabolic dietitian, certified genetic counselor, and nurse provide care to the family.

In-depth research leads to innovative care. These clinics are involved with several research studies and registries to advance the understanding and management of inborn errors of metabolism.

Innovative treatment designed for you. Using advanced genetic tests, our genetics experts identify the exact cause of your child's condition and provide treatment based on your child’s genes. We are one of the few hospitals in South Florida to offer these targeted, personalized treatments as well as the latest clinical trials. We also have a specialized diagnostic laboratory for inborn errors of metabolism. This means your child gets more testing and treatment options designed just for them.

Convenient locations. We currently provide outpatient service to patients with inborn errors of metabolism in three South Florida locations – Weston, Downtown Miami (located at the University of Miami Medical Campus/Jackson Memorial Hospital), and in South Miami/Palmetto Bay (located near Jackson South Medical Center). We provide inpatient service to patients with inborn errors of metabolism at UHealth Tower and Jackson Memorial Hospital/Holtz Children’s Hospital. We also see patients via Telemedicine.


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