Description:
This article discusses
Phenylketonuria (PK), a metabolic disease occurring in 1 of every 10,000 to
20,000 births in the United States. PKU is an inborn error of metabolism that is
a disease caused by the disruption of enzyme function due to the failure to
inherit the gene required to produce a particular enzyme. This article
discusses PK in detail, including physiology, symptoms, and laboratory
diagnosis of the disease.
Learning Objectives:
- Describe the physiology of PKU
- Discuss the symptoms of PKU
- Describe the laboratory diagnosis of PKU
Author(s):
Kerri Wright, CLS, George H. Roberts, EdD, CLS(NCA)
Launched: 2007