UNIT 17.1 An Overview of Biochemical Genetics

  1. J. Daniel Sharer

Published Online: 1 NOV 2005

DOI: 10.1002/0471142905.hg1701s47

Current Protocols in Human Genetics

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.

Author Information

  1. University of Alabama at Birmingham, Birmingham, Alabama

Publication History

  1. Published Online: 1 NOV 2005
  2. Published Print: OCT 2005

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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.


  • biochemical;
  • genetics;
  • metabolism;
  • enzyme;
  • mass spectrometry;
  • enzyme-replacement therapy