Phenylketonuria (PKU) is a genetic inborn error of metabolism that is detectable during the first few days of life by the appropriate blood testing eg. Newborn screen-test.
PKU effects : 27,199 people per year, 2,266 people per month, 523 people per week, 74 people per day, 3 people per hour, 0 people per minute or per second, And yet there has not been a home monitoring device made to regularly test phenylalanine levels in the blood.
Persons born with PKU have an absence or deficiency of an enzyme called Phenylalanine Hydroxylase Enzyme. This Enzyme is responsible for processing the essential amino acid “Phenylalanine” When the enzyme is present or has normal enzymatic activity Phenylalanine is converted into another amino acid called “tyrosine”, which is then utilized by the body. When this enzyme is defective Phenylalanine abnormally accumulates in the blood and is toxic to the brain tissue. Without treatment this can cause serious or life threatening side effects like brain damage.
Other effects may include slow development, slow motor skills, behavioral and anger problems, as well as many other neurological symptoms. To prevent Mental Retardation, treatment consists of a carefully controlled PHE-restricted diet begun in the first few days or weeks or life. This treatment /diet is strongly advised to be continued for life. A carefully maintained diet can prevent toxic levels in the brain as well as all previously stated symptoms. It is proven that keeping Phenylalanine levels between 2-6 mg/dl is the safest, especially in infants, young children and women of childbearing ages. Frequent blood testing should be done to monitor the levels and to achieve this goal.
However some people do not have access to the equipment or labs for frequent blood testing. Some people with PKU have to commute long hours to reach a lab. Or if they are able to test their levels at home they use the same system from when they were diagnosed at birth. They take their blood from their finger with a “needle pen” just like diabetics but instead of having a device, they place their blood in 4 circles on a card and mail it to a testing center. This is a major inconvenience, as you may wait weeks for results to come back. If the person is sick or pregnant it may be too long to wait without causing some damage.
When a person with PKU is pregnant the levels in the fetus are double those of the levels in the mother. These levels are highly toxic and are life threatening to the infant, which can lead to have birth defects such as, heart defects, microcephy (small heads), and mental retardation. These effects are irreversible.
If there was a blood testing device available for people with PKU, It would be life altering. As if you were sick or pregnant you can test your levels as often as needed to make the necessary changes in your treatment to insure both your health and the health of the unborn child.
We the undersigned feel it is time for persons with PKU to have a "PKU
Home monitoring device" and we call upon the Provincial Government of BC
to recognize this need as it is not only crucial to the survival of
people with PKU but the survival of their children as well.
The Provide PKU Home Testing Devices petition to Goverment Of British Columbia was written by Amanda Cosburn and is in the category Health at GoPetition.