Advanced Medical Genetics: Metabolic Genetics

1 Unit

The purpose of this half-semester course is to examine the biochemical basis of human disease. We will cover we clinical phenotypes, diagnosis, treatment, and genetic counseling for inborn errors of metabolism. Fundamental principles of metabolic testing, amino acid disorders, organic acid disorders, carbohydrate disorders, peroxisomal disorders, and mitochondrial disorders will be covered. Discussion of screening principles and newborn screening as well as approaches to diagnosis, management and therapy for metabolic diseases.