UNIT 17.1 An Overview of Biochemical Genetics
Published Online: 1 JUL 2011
Copyright © 2011 by John Wiley & Sons, Inc.
Lab Protocol Title
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.
- Published Online: 1 JUL 2011
- Published Print: JUL 2011
This is not the most recent version of the article. View current version (1 APR 2016)
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.
- mass spectrometry;
- enzyme-replacement therapy