How is phenylketonuria diagnosed?

Phenylketonuria (PKU) is a rare genetic condition that causes an amino acid called phenylalanine to build up in the body. Amino acids are the building blocks of protein. Phenylalanine is found in all proteins and some artificial sweeteners. read more

Phenylketonuria is generally diagnosed through newborn screening. Once your child is diagnosed with PKU, you'll likely be referred to a medical center or specialty clinic with a doctor who specializes in treating PKU and a dietitian with expertise in the PKU diet. read more

Phenylketonuria information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis. read more