The Neurometabolism Program provides diagnostic and treatment services for patients with metabolic disorders or medical conditions thought to result from inherited disorders of normal metabolism.
The Program is staffed by a Pediatric Neurologist and Physician Assistant, both with extensive training and experience in diagnosis and management of patients with metabolic disorders. Collaboration with Pediatric Nutrition is an important component of this program. Certified Genetic Counselors and Medical Geneticists provide specific genetic counseling and testing questions for patients attending the Neurometabolic Clinic. This Clinic also specializes in mitochondrial disorders.
Examples of metabolic problems
- Mitochondrial disorders include lactic acidosis, Leigh Disease, NARP, and Leber Hereditary Optic Atrophy
- Metabolic disorders such as amino acidopathies, storage diseases, organic acid disorders and fatty acid disorders
- Certain neurogenetic disorders
The Neurometabolism Program is a multidisciplinary team of health professionals directed by: