An Overview of Biochemical Genetics. (1st April 2016)

• Record Type: Journal Article
• Authors: Sharer, J. Daniel
• Editors: Haines, Jonathan L.; Korf, Bruce R.; Morton, Cynthia C.; Seidman, Christine E.; Seidman, J.G.; Smith, Douglas R.
• Is Part Of: Current protocols in human genetics. Volume 89(2016)
• Page Start: 17.1.1
• Page End: 17.1.16
• Publication Date: 2016-04-01
• Subjects: biochemical genetics -- metabolism -- enzyme -- mass spectrometry -- enzyme‐replacement therapy -- newborn screening; Human genetics -- Laboratory manuals; Genetic Techniques; Human genetics; Laboratory manuals; 599.935028
• DOI: 10.1002/0471142905.hg1701s89
• Languages: English
• ISSNs: 1934-8258

Abstract

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.