The PKU Foundation

The PKU Foundation
The PKU Foundation

July 2010

Phenylketonuria, PKU, is a very rare genetic disorder in which a baby lacks or has very low levels of the enzyme phenylalanine hydroxylase (PAH). This enzyme is necessary to convert phenylalanine (PHE), an amino acid, into another amino acid called tyrosine after protein is eaten. If PKU is not treated soon after birth, PHE builds up in the bloodstream and brain tissue, causing mental retardation and central nervous system problems. If PKU is diagnosed and treated soon after birth, all or most of these problems can usually be prevented.

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