Unit

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

This is not the most recent version of the article. View current version (1 APR 2016)

Abstract

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.

Keywords:

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