PKU+Information

- PKU is an autosmal recessive genetic disorder.

- It occurs due to an error in the hepatic enzyme.

-The hepatic enzyme is necessary to metabolize amino acids.

-PKU is detected in urine.

-There are currently no cures, but there have been advances in treatments.

-It leads to mental retardation, brain damage, and seizures.

-It is a build up of Phenylalanine in blood.

-It is a mutation in the PAH gene.

-When somebody has PKU, there are over 500 mutations in the PAH gene.