Inborn Errors of Metabolism

Section for Biochemical Genetics (SBG) at Department of Medical Biochemistry is specialized in laboratory diagnostics of inborn errors of metabolism. About 1000 inborn errors of metabolism are presently known. These genetic disorders are individually rare, but collectively numerous. In addition to the routine diagnostic work the section is also a National Resource Centre for Biochemical Diagnostics of Inborn Errors of Metabolism. One of the main tasks of a National Resource Centre is research.