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 ...

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 ...

Historical data show the prevalence of pulmonary arterial hypertension (PAH) in adult patients with congenital heart disease ...

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 ...

You have full access to this article via your institution. Pulmonary arterial hypertension (PAH) is a chronic progressive disease characterized by endothelial cell (EC) dysfunction, substantial ...