PKU Tri-Unity

Spreading Awarness for PKU In British Columbia , Canada

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What is PKU?

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.

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.

However 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.

In today’s world PKU is becoming more and more recognizable then it was 20 yrs ago, as PKU is an inherited automosomal recessive trait. Meaning two people who conceive a child must both be carriers .If both parents are carriers there is a 25% possibility of the child being born with PKU , 50% chance of the child being a carrier them selves and 25% of the child being neither. If the same couple conceives more children there is a one in four or 25% chance of PKU in each pregnancy. Though not all siblings will be born with PKU the others will still be PKU carriers and have a chance themselves of having a PKU baby.
Even with today’s statistics there is not enough awareness or knowledge of PKU nor is there any coverage for PKU medical foods and supplies.

Dr.Robert Guthrie

PKU was first Discovered in the 1930's, but testing and treatment didn't begin till the 1960's , thanks to Dr. Robert Guthrie.

Dr. Robert Guthrie (June 28, 1916 — June 24, 1995) was an American microbiologist, the first to use dried blood spotting, which he first did in the 1960's. He originally designed it for use in neonatal circumstances, in which it continues to be used for over 95% of newborns, but its use has since spread to almost every field involving blood collection.

The Guthrie Test is still an important tool, and dried blood spots are becoming more widespread in use, with well over 90% of American newborns born since 2000 having had one taken.

Guthrie declined to patent or accept royalties for his test. As a result, the price of the test was minimized and hospitals were able to quickly implement screening for PKU on a large scale.

Welcome

Welcome to my PKU Website. My Name is Amanda, I created this site to help spread awareness for PKU in British Columbia and Canada. Please enjoy your stay. Be sure to sign the Guest book and feel free to contact me anytime at Amanda_Cosburn@hotmail.com

Amanda Cosburn
22 CPKU Victoria BC Canada
http://pkutriunity.bravehost.com
http://www.canpku.org
http://www.pkuboard.info

Did You know??

There are approx. 3,250 people with PKU in Canada.

1 per 10,000 - 15,000 newborns are diagnosed with phenylketonuria in the US

27,199 per year, 2,266 per month, 523 per week, 74 per day, 3 per hour, 0 per minute, 0 per second are born with PKU .