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My other blog...phenylketonuria

Heal The World

Heal The World
There's A Place In
Your Heart
And I Know That It Is Love
And This Place Could
Be Much
Brighter Than Tomorrow
And If You Really Try
You'll Find There's No Need
To Cry
In This Place You'll Feel
There's No Hurt Or Sorrow

WHAT IS PKU?

Phenylketonuria (PKU) is an inherited error of metabolism caused by a deficiency in the enzyme phenylalanine hydroxylase. Loss of this enzyme results in mental retardation, organ damage, unusual posture and can, in cases of maternal PKU, severely compromise pregnancy.

Classical PKU is an autosomal recessive disorder, caused by mutations in both alleles of the gene for phenylalanine hydroxylase (PAH), found on chromosome 12. In the body, phenylalanine hydroxylase converts the amino acid phenylalanine to tyrosine, another amino acid. Mutations in both copies of the gene for PAH means that the enzyme is inactive or is less efficient, and the concentration of phenylalanine in the body can build up to toxic levels. In some cases, mutations in PAH will result in a phenotypically mild form of PKU called hyperphenylalanemia. Both diseases are the result of a variety of mutations in the PAH locus; in those cases where a patient is heterozygous for two mutations of PAH (ie each copy of the gene has a different mutation), the milder mutation will predominate.

A form of PKU has been discovered in mice, and these model organisms are helping us to better understand the disease, and find treatments against it. With careful dietary supervision, children born with PKU can lead normal lives, and mothers who have the disease can produce healthy children.

ABOUT ME

I am a Kristian Štajduhar and this is my official blog. Written by my dad Domagoj. I have the disease phenylketonuria. Doctors in Croatia have made a mistake and I discovered too late disease. I have a lot of problems because of it. I have a separate life from others and thus send a message to others about the disease. Help the children of this world.