UNIT 17.1 An Overview of Biochemical Genetics
Published Online: 1 NOV 2005
Copyright © 2005 by John Wiley & Sons, Inc.
Lab Protocol Title
Current Protocols in Human Genetics
How to Cite
Daniel Sharer, J. 2005. An Overview of Biochemical Genetics. Current Protocols in Human Genetics. 47:17.1:17.1.1–17.1.14.
- Published Online: 1 NOV 2005
- Published Print: OCT 2005
This is not the most recent version of the article. View current version (1 APR 2016)
Biochemical genetics is focused on the pathophysiology, diagnosis, and treatment of inborn errors of metabolism, which result in potentially toxic accumulation of substrate or secondary metabolites, and/or inhibition of reaction products. Early-onset metabolic disorders often present during infancy as acute, life-threatening illnesses; other forms of inborn errors appear later in childhood and are often characterized by progressive neurodegeneration. This unit provides an overview of modern biochemical genetic diagnostic methods used to evaluate a patient's metabolic status via measurement of reaction products or a specific enzyme activity. One such technique, tandem mass spectrometry (MS/MS), has revolutionized population-scale newborn screening for metabolic disorders by providing rapid, accurate, multianalyte quantification on small samples. The combination of expanded newborn screening and novel therapeutic approaches, such as enzyme-replacement therapy, offers significant improvement in the management of metabolic disorders.
- mass spectrometry;
- enzyme-replacement therapy