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Phenylketonuria (PKU) is an inherited genetic condition in which the body is not able to break down phenylalanine hydroxylase (PHA), a certain type of amino acid found in food. The PHA enzyme needs tetrahydrobiopterin (BH4), a substance naturally present in your body, to function properly. When the PHA enzyme cannot do its job, too much phenylpyruvate (Phe) builds up in the blood, which can result in cognitive impact and behavioral problems.
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Other Resources:
Kuvan.com
PKU Social Network
National PKU News
Kuvan is a registered trademark of BioMarin Pharmaceuticals, Inc.
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