An Overview of Biochemical Genetics

J. Daniel Sharer1

1 University of Alabama at Birmingham, Birmingham, Alabama
Publication Name:  Current Protocols in Human Genetics
Unit Number:  Unit 17.1
DOI:  10.1002/0471142905.hg1701s89
Online Posting Date:  April, 2016
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Abstract

Biochemical genetics focuses on the pathophysiology, diagnosis, and treatment of inherited metabolic disorders. While individually rare, the combined incidence of these diseases makes them a significant source of morbidity and mortality, particularly among infants and young children, and new conditions continue to be identified. Inherited metabolic disorders may present as an acute, life‐threatening illness or with more chronic, progressive symptoms. Population‐scale newborn screening allows for early detection and treatment for >40 different metabolic disorders. This introductory unit is intended to provide an overview of the different clinical categories of metabolic disorders, including a description of modern diagnostic methods and treatment options. © 2016 by John Wiley & Sons, Inc.

Keywords: biochemical genetics; metabolism; enzyme; mass spectrometry; enzyme‐replacement therapy; newborn screening

     
 
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Table of Contents

  • Introduction
  • The Diagnostic Laboratory
  • Mitochondrial Disorders
  • Congenital Disorders of Glycosylation
  • Other Disorders
  • Biochemical Methods
  • Newborn Screening
  • Treatment of Metabolic Disorders
  • Figures
  • Tables
     
 
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Materials

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Literature Cited

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