Diagnosis and Treatment of Patients With Inborn Errors of Metabolism

Study Description: We propose to characterize the etiology and natural history of rare inborn errors of metabolism and other genetic disorders, both known and yet-to-be discovered. In so doing, we will expand our knowledge about these disorders and provide access to patients of interest for research, teaching, and clinical experience. Objectives: The overall aim of this protocol is to advance our knowledge of genetic disorders.