Light Blue is for PKU (December)

Light Blue is for PKU (December)

PKU is: phenyketonuria-enzyme missing to break down phenylalanine

Phenylalanine is an amino acid that builds up in the body causing PKU. It is a recessive genetic disorder affecting Chromosome 12. 

The mother can have the gene but it will not affect the child unless the father is also a carrier. This condition is passed on by the father. There are other conditions where the mother's genes affects the outcome of the child.  This is why genetic testing is beneficial.

Signs and symptoms of PKU include: eczema, microcephaly (small head size) bad breath, behavior problems, developmental delay, intellectual disabilities, seizures, and attention deficit disorder.

Genetic testing for PKU is done shortly after the birth- usually with a blood sample from the heel of the newborn within-- 24-48 hours after birth.  It is part of routine newborn screening.  Genetic testing for parents is also encouraged because PKU is a genetic condition. 

Treatment includes: vitamin/ mineral supplements and a special diet.The diet will consist more of breads, pastas, fruits and vegetable but will be limited in protein, dry beans, nuts, eggs, dairy products and foods with aspartame. 

There is no cure.  


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