Phenylketonuria - gene disorder

Big image

What is Phenylketonuria ( PKU) ?

Pku is known for a gene disorder from birth that causes amino acids (phenylalanine) to build up in the body . Pku creates an enzyme( protein molecule that helps organic molecules enter chemical reaction) and it breaks down phenylalanine. Without the enzyme someone who has pku can get build up when they eat a high amount of protein . If not treated for pku it can lead to brain damage , mental retardation , behavioral symptoms and seizures.

Symptoms ?

PKU needs a medical diagnoses. There aren't "symptoms" but there are some signs:atopic dermatitis , body odor ,loss skin color, or uriane odor . You may also see he following: delayed development , failure to thrive , short stature , slow growth .

The role of proteins?

The role of proteins are amino acids all combined that form a long chain. This chain helps the structure, function , and regulation of the body tissues and organs.

Good sources:

  • chicken breast

  • Greek yogurt

  • steak

  • whey protein

Enzymes: is a substance produced by a living organism that acts as a catalyst to bring about a specific biochemical reaction.

How do they work? Enzymes work by speeding up the rate all chemical activites that take place in the body.

if stopped working ..? enzymes would stop and the occurring chemical reaction will slow down to a pace that is deadly.


organic molecule which are the building blocks of nucleic acids. Nucleotides are made of a nitrogen base , five carbon sugar and at least one phosphate group.


Drink plenty of water to wash away any bad body fluids and help clean out bad waste.


A person with PKU has to have limit access to protein, this goes into the treatment plan.


Can't be cured, but treatment may help

Treatment includes a strict diet with limited protein.

The person diagnosed would have a low protein lifestyle.