The Neurogenetics / Metabolic Program
Part of the nationally recognized Nicklaus Children's Brain Institute®, The Neurogenetics / Metabolic Program is the only program in the state with dedicated multidisciplinary team providing comprehensive care for children with complex neurogenetic/metabolic disorders referred from throughout Florida as well as the Caribbean and South and Central America. The program provides screening, early intervention and quaternary treatments including critical care and clinical trials.
The Neurogenetics / Metabolic Program evaluates and treats all the children and young adults with suspected neuro genetic and neurometabolic disorders, including inborn errors of metabolism, intractable epilepsies, intellectual disabilities, autism, abnormal newborn screen and progressive neurodegenerative conditions and storage disorders. It focuses on diagnosis and treatment of these types of conditions. The program is staffed by board-certified physicians and licensed ARNP and nutritionists along with a dedicated clinic coordinator.
Conditions treated by the Neurogenetics/Metabolic Program
- Metabolic disorders
- Epilepsy and genetics
- Neurogenetic disorders
Causes of Neurometabolic disorders
- Inborn errors of metabolism
- Abnormalities in genes
- Chromosome abnormalities
Signs and Symptoms
- Neuro regression
- Failure to achieve milestones
- Developmental delay- unspecified
- Failure to thrive
Specific neurometabolic disorders are treated with:
- Special diets
- Mitochondrial medications and supplements
- Enzyme replacement therapy
The treatment depends on the etiology of the condition.