The Program in Biochemical Genetics and Metabolic Diseases operates at both the University of California, San Diego and Rady Children’s Hospital-San Diego.
The following are participating physician members of Children’s Specialists Pediatric Metabolic Division:
The Program is concerned with the diagnosis and treatment of inherited metabolic disorders, such as:
enzyme deficiencies affecting amino acid, organic acid, and fatty acid
purine and pyrimidine metabolism
glycogen and lysosomal storage diseases
The program has particular interest and experience in mitochondrial disorders affecting energy metabolism, and is part of a multi-departmental
Mitochondrial and Metabolic Disease Center. Comprehensive services include:
English