Research work · 2011
An Overview of Biochemical Genetics
Current Protocols in Human Genetics
Abstract
AbstractBiochemical 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.