Living with PKU

By: Sarah Lopez

What is PKU?

-Discovered in 1934 by Dr. Asbjørn Følling in Norway

-Metabolic disorder- effects the metabolisms ability to break down protein

-Effects the brain and nervous system

-If left untreated it can cause mental retardation

Symptoms of PKU

-Brain Damage


-Behavioral Problems

-Stunted growth

-Small head (microcephaly)

-Fair skin

-Jerky arm and leg movements


-Musty Body odor

What causes PKU?

-The gene effected is located on chromosome 12 and it is responsible for creating an enzyme called phenylalanine hydroxylase (PAH)

-PAH breaks down the amino acid phenylalanine converting it to tyrosine- a nonessential amino acid

-Tyrosine is then needed to create neurotransmitters

-The effected gene is unable to create tyrosine causing phenylalanine to build up in the blood poisoning neurons in the brain

-The neurons are then not able to help your brain learn and react


-Blood samples are taken from the heal or arm soon after you are born

-The blood is checked for high levels of phenylalanine.

Inheriting PKU

-PKU is an autosomal disorder so it is common in both men and women

-It is recessive so two genes must be present in the body for the disorder to show through


-Someone with PKU should try and eat a low-protein diet so it doesn't build up in the body

-Babies are given special formula

-Kuvan is a medicine that stimulates the enzymes so they can brake down the protein

-PKU formula can be supplied by the government for free otherwise it costs about $7,100 for a years worth of formula

-Gene therapy is an option for someone with PKU but it has not been proven to stop or cure the disorder

Likliness of PKU

-1 out of every 10,000-15,000 babies are born with PKU

-20,000 Americans are known to be taking PKU formula

-Native Americans, Northern Europeans, African- Americans, and the Japanese are shown to have the disease most commonly