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PKU affects about 1 in 10,000 - 15,000 newborns in the United States. About 1 in 12,000 in North America, 1 in 4,500 newborn babies in Ireland and Turkey, 1 in 10,000 in most of Europe and 1 in 11,000 in South America.There is currently research being done in institutes within the National Institutes of Health. According to the website there are 23 open studies on PKU. A project by BioMarin called PEG-PAL seemed to have promising results but I can find any information on it after mid October of last year, it is unclear whether it is still a running project. There is also Cofactor Therapy (KUVAN), Large Neutral Amino Acids, Glycomacropeptide, Hepatocyte transplantation, and gene and cell therapy.PKU is inherited through an autosomal recessive pattern, which means that both copies in each cell have mutations. Normally both parents of people with PKU carry one altered gene.The National PKU Alliance works to improve lives of people and families associated with PKU by research, support, advocacy, education, and trying to find a cure. The National Organization for Rare Disorders works to increase awareness and support for those with PKU.


If a child goes without treatment of what is called classic PKU, the most severe form of the disease, they can develop permanent intellectual disability. They can also have seizures, delayed development, behavioral problems, and psychiatric disorders. They can also have a musty or mouse-like odor and skin and hair that is lighter than other family members. They can also develop skin rashes like eczema. People with less severe forms of PKU are less likely to be at risk of brain damage. Babies born to mothers with uncontrolled phenylalanine levels can also weigh less at birth, grow slower, have heart problems, have abnormally small heads (microcephaly), and behavioral problems.

PKU does not have a cure but it can be treated by eating a lifelong special diet that limits the amount of phenylalanine you consume. You also take a PKU formula, a supplement that gets your body the nutrients and proteins it needs. Infants and babies cannot consume breast milk so they need a special formula called Lofenalac. Children are tested after 24 hours of drinking milk, generally a few days after they are born when they are still in the hospital. A blood sample is taken and then analyzed to see if the enzyme is present.



More Information

Phenylketonuria (PKU) is a disorder that causes a buildup of an amino acid called phenylalanine. The disorder is caused by a defect in the gene that creates essential enzymes used to break down phenylalanine, without the enzyme it builds up and can eventually cause serious problems.

What is PKU?

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Phenylketonuria. (n.d.). Retrieved December 13, 2015, from