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Phenylketonuria (PKU): A problem solved?

Christine S Brown1, Uta Lichter-Konecki2

  • 1National PKU Alliance, Tomahawk, WI 54487, United States.

Molecular Genetics and Metabolism Reports
|March 26, 2016
PubMed
Summary

Phenylketonuria (PKU) patients struggle with high blood phenylalanine (Phe) levels, especially adults. Many desire new treatments for better diet flexibility, mental health, and easier administration, preferably oral.

Keywords:
ACMG, American College of Medical Genetics and GenomicsNPKUA, National PKU AlliancePAH, phenylalanine hydroxylasePKU, phenylketonuriaPhe, phenylalaninePhenylalaninePhenylalanine hydroxylase deficiencyPhenylketonuria

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