Phenylketonuria also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine.
Without the enzyme necessary to process phenylalanine, a dangerous build up can develop when a person with PKU eats food that contains protein or eats aspartame,
an artificial sweetener. This can eventually lead to serious health problems.
PKU is a treatable condition. The treatment
is a lifelong protein diet. The PHE test makes it possible to monitor PHE levels from home on a daily basis (the first in the world). There are 100.000 living with the condition worldwide.