UNIT 17.1 An Overview of Biochemical Genetics

  1. J. Daniel Sharer

Published Online: 1 JUL 2011

DOI: 10.1002/0471142905.hg1701s70

Current Protocols in Human Genetics

Current Protocols in Human Genetics

How to Cite

Sharer, J. D. 2011. An Overview of Biochemical Genetics. Current Protocols in Human Genetics. 70:17.1:17.1.1–17.1.14.

Author Information

  1. University of Alabama at Birmingham, Birmingham, Alabama

Publication History

  1. Published Online: 1 JUL 2011
  2. Published Print: JUL 2011

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Biochemical genetics focuses on the pathophysiology, diagnosis, and treatment of inherited metabolic disorders. While individually rare, the combined incidence of these diseases is likely greater than 1:3000 live births. These conditions may present in the neonatal period as an acute, life-threatening illness, or may manifest later in childhood with symptoms of progressive neurodegeneration, skeletal abnormalities, and/or dysmorphia. The purpose of this introductory unit is to provide an overview of the different clinical categories of metabolic disorders, modern diagnostic methods, and treatment options. Curr. Protoc. Hum. Genet. 70:17.1.1-17.1.14 © 2011 by John Wiley & Sons, Inc.


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