Phenulketonuria(PKU)-Autosomal Recessive

It is a rare condition when a baby is born without the ability to properly break down an amino acid called phenylalanine.

•there is a mutation in a gene which codes for the enzyme (PAH)
•It is found on chromosome 12
It is a recessive allele so therefore a person must have two copies of the allele in order to be affected by the disease.


Prognosis
•All states test for the disease within first two weeks of birth (Guthrie test & HPLC test)
•It occurs every 1 in 15,000 births.

Symptoms (if un-treated)
Mental retardation, seizures (if you don’t follow the diet)

Treatment-requires a diet low in phenylalanine
“diet for life”
Foods high in phenylalanine
-eggs, fish, seafood, milk, aspartame, sweeteners, meats
Mothers that are carriers should be on the diet while pregnant.
•Take supplements to replace nutrients
•As long as the diet is followed, development and life expectancy is normal.