Rare Disease Spotlight: Phenylketonuria

Rebekah Harrison

Phenylketonuria, also referred to as PKU is a rare genetic disorder that causes a build up of phenylalanine in the body. People with PKU need to follow a strict diet that linits phenylalanine which is found in mostly proteins. PKU is caused by a mutation in a gene on chromosome 12.
PKU affects approximately 1 in 48,000 newborns.


Pregnancy and PKU
If a woman with PKU does not follow a special diet while pregnant, she may develop a condition called maternal PKU which can cause miscarriage or harm a developing fetus.



Dietary Treatment  
Medical Treatment

Clinical Trials


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