Pediatric Genetics and Metabolism

Our clinical and research programs evaluate and treat children with genetic disorders, including inborn errors of metabolism, congenital birth defects and many other rare genetic conditions.

Our mission is to provide comprehensive clinical care and diagnostic genetic services to children referred for genetic disorders evaluation. Our team of skilled health professionals and medical genetics instructors also strive to impart our clinical knowledge and experience to students and residents at all levels of their training. We are also active in clinical and molecular-based genetics research.

Faculty and staff include pediatric physicians, genetic counselors and metabolic nutritionists with expertise in clinical medicine and the science of metabolism and molecular genetics.

Genetics and metabolism services at UF Health Shands Children's Hospital

Conditions we treat and consultations we provide for children with:

• Congenital malformations
• Inborn errors of metabolism
• Developmental disabilities and mental retardation conditions
• Neurogenetic disorders
• Chromosome abnormalities
• Teratogen exposures
• Rare genetic syndromes and other pediatric genetic disorders

Genetic counseling to help families understand:

• Risk for recurrence of a genetic condition
• Inheritance patterns and expected diagnosis for a given genetic condition
• Availability of molecular testing and expected outcomes of testing

Special consultation programs and services

• Craniofacial Clinic, Gainesville
• Cytogenetics Laboratory, Gainesville
• Lysosomal storage disease program
• Phenylketonuria (PKU) treatment program, Gainesville
• Telemedicine consultation
• Outreach clinics

Statewide programs

• Florida Newborn Screening Program - Every newborn born in Florida is screened for more than 35 inherited metabolic and/or genetic conditions.
• Children's Medical Services (CMS) Regional Genetics Program - Satellite clinics in Pensacola and Tallahassee
• Raymond C. Philips Research and Education Unit - State of Florida-funded developmental disabilities program

Resources

• Admissions at UF Health Shands Hospital
• Child-Life Program at UF Health
• Conditions and treatements
• Clinical Trials
• UF Genetics Institute

Metabolic Nutritionists

• Alexa Bledsoe
• Krista Mantay
• Anna McGuinness