Skip Navigation

What is PKU?

Internet URL

http://www.pkunetwork.org/PKU.html  External Link

Sponsoring Agency

Children's PKU Network

Description

Phenylketonuria (PKU) is a genetic inborn error of metabolism that is detectable during the first days of life with appropriate blood testing (newborn screening). The absence or deficiency of an enzyme that is responsible for processing the essential amino acid phenylalanine characterizes PKU.

Related Topics

Review Date

3/6/2007