Newborn screening for PKU has allowed for early management of the condition, which serves to improve the prognosis in most cases. Research into PKU in adults has focused mostly on cognitive function; ...

To control their phenylalanine (Phe) levels, patients with PKU are advised to follow a restricted diet. However, little is known about the long-term consequences. A new study of 15 adults with PKU ...

Phenylketonuria (PKU) is a rare genetic condition that affects how your body processes an amino acid called phenylalanine (Phe). People with PKU have low levels or missing activity of an enzyme called ...

What Is Sephience, and Why Does It Matter? Sephience (sepiapterin) is a new oral medication approved by the FDA to treat a rare inherited condition known as phenylketonuria (PKU) in adults and ...

A special diet is the main treatment for phenylketonuria. Medications are also available. Treatment and monitoring is lifelong. Phenylketonuria (PKU) is an inherited condition where the amino acid ...