Screening Laboratory has provided biochemical detection of inherited metabolic disorders since 1970. The laboratory screens for many other amino acid, organic acid, and carbohydrate disorders which can be treated with special diets. Other biochemical genetic conditions for which there is no current dietary or biochemical replacement therapy available are also detected. There are over 250 different diagnosable genetic metabolic disorders that cause a vast array of clinical symptoms such as mental retardation, acute acidosis, neuromuscular abnormalities, and storage disorders in many body organs. The IEM laboratory performs several specialized tests on various body fluids and tissues in order to screen, diagnose, and treat these disorders.
Current research focuses on inborn errors of metabolism.
Training in the area of Biochemical Genetics is limited to those individuals seeking postdoctoral training and certification, either M.D. or Ph.D., through the American Board of Medical Genetics. This page has been accessed times since August 11, 1998.