BioMarin Pharmaceutical Inc. has advancements in phenylketonuria treatment. Click to learn how Palynziq's success could ...

Phenylketonuria occurs when there is a mutation of the PAH gene, which produces the enzyme responsible for the breakdown of phenylalanine called phenylalanine hydroxylase. Without enough ...

Three decades of data from the Global Burden of Disease Study were analyzed for trends in global, regional, and national ...

The PKU-associated enzyme deficiency was determined biochemically in the 1950s—long before the PAH-encoding gene was mapped to human chromosome 12 and cloned in 1983. Specifically, Dr. Willard ...

One example is a disease called phenylketonuria (PKU). It is caused by a change in the PAH gene. The PAH gene contains the information required to make the enzyme which breaks down phenylalanine ...

Patients with CTD-PAH and HFA-PEFF scores ≥5 have higher risks of mortality and clinical worsening. The HFA-PEFF algorithm is effective for diagnosing HFpEF and assessing disease outcomes in CTD ...

A polymorphism in the serotonin transporter (SERT) gene has been linked to increased susceptibility to PAH, although this polymorphism alone does not appear sufficient to mediate PAH. Emerging ...