PKU (phenylketonuria)

Radica & Emily


Phenylketonuria (PKU) is a rare inherited disorder which causes an amino acid called phenylalanine that build up in the body.

Type of disorder

Autosomal recessive trait


Intelectual disability, delayed development, seizures, abnormal small head, poor bones strength

How it affects someones life

People who have PKU have to follow a special diet that controls intake of protein.


There is no treatment for PKU, but scientists have created a diet for those with PKU to make the disease easier to live with.