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
-Epilepsy
-Behavioral Problems
-Stunted growth
-Small head (microcephaly)
-Fair skin
-Jerky arm and leg movements
-Eczema
-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
Diagnosis
-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
Treatment
-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