PAH is normally involved in breaking down the amino acid phenylalanine (Phe). In people with PKU, Phe accumulates in the body. Because Phe is toxic to brain tissue, children born with PKU can ...

People with phenylketonuria (PKU) cannot break down the amino acid phenylalanine. Amino acids are organic compounds in food that the body needs to function. The body uses amino acids to carry out ...

There are two drugs approved to treat PKU, but one isn’t widely used because it can cause a serious allergic reaction, and the other only helps people with a certain type of PKU. Aoife Brennan ...

“We look forward to sharing these data with the scientific community and to submitting them to global regulators with the goal of making Palynziq available for younger people living with PKU.

that has the potential to be a first-in-class oral therapy used to treat any person with PKU, regardless of age or genotype. JNT-517 acts at a novel, cryptic allosteric site to block kidney ...

The primary way to treat PKU is to follow a special diet that limits foods containing phenylalanine (20). However, because tyrosine is made from phenylalanine, people with PKU can become deficient ...

Diagnosis of PKU usually takes place during newborn screening programs. There are an estimated 58,000 people living with PKU globally.

Researchers in Adelaide are looking to expand newborn heel-prick screening to help identify up to 600 additional genetic conditions early.