Tuesday, May 15, 2012

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





USA29,365293,655,4051
China129,884 WARNING! (Details)1,298,847,6242

The data above shows how many people are affected 
by the disease. The WARNING! is just to let us know
that the data is not based on the countries specific data sources.

Thursday, May 3, 2012



 The image above shows how Phenylketonuria can be
 passed/inherit from parents to offsprings.











This image above  shows how the building up of Phenylalanine
turns into toxic levels that a kid cannot handle & can't produce the 
amino acid, Tyrosine.


I've learned that the cause of Phenylketonuria may be
caused from a single mutation.
That may have had occurred in Chromosome 12.
Different mutations have different effects on the enzyme.
Some mutations change the shape of the enzyme
so that in no longer recognizes Phenylalanine anymore.
Some mutations change the shape so that the
enzyme works very slowly.
Other mutations change the shape so that the enzyme 
is unstable & degrades.


If a person with PKU keeps adding Phenylalanine 
foods into his /her body .
Phe builds up in the brain & poisons the neurons.

Tuesday, May 1, 2012


Why did you choose your topic.?.

I chose the topic of Phenylketonuria because it seemed really interesting 
& is a topic that not a lot of people know about.
Also, Phenylketonuria or {PKU} is a rare condition, a genetic disorder in
which the body can't process part of the protein/amino acid called Phenylalanine.
Phenylalanine{Phe} is in almost all foods, if the level is too high
 it can damage the brain & cause Cretinism.
Cretinism is when a brain & skeleton fails to develop properly
resulting in mental retardation & dwarfism.

In the image below it shows what a normal person can eat, & a person with PKU can eat.


Picture