A new study suggests early detection improves outcomes, but metabolic episodes in the first days of life still prove ...

Medically reviewed by Aviv Joshua, MS, RDN Phenylalanine is an essential amino acid (building block of protein) that the body ...

A rare disease in the US is one in 1,500, or fewer than 200,000 people, and an ultra-rare disease is one in 50,000 or fewer than than 6,000 people.

Considering taking supplements to treat phenylketonuria pku? Below is a list of common natural remedies used to treat or reduce the symptoms of phenylketonuria pku. Follow the links to read common ...

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 ...