What’s Phenylketonuria?

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Phenylketonuria (PKU) is a treatable inherited disease caused by a single gene mutation. The disease is inherited in an autosomal recessive manner. This means that children with PKU must get a recessive gene from both parents to have the condition, but that doesn’t mean both parents actually have phenylketonuria.
In this condition, the body is unable to process phenylalanine, an amino acid found in many foods. The main treatment for this condition is for people to follow a special phenylalanine-free diet, from infancy onwards. Failure to avoid exposure to phenylalanine leads to extremely serious complications, which can include mental retardation, seizures, mental instability, and growth and developmental retardation.

Fortunately, in many countries, it is mandatory to test newborns for phenylketonuria. Mandatory testing is performed in all US states, Canada, most of Europe including Eastern Europe, and some Asian countries. Children of Caucasian or Asian descent inherit the condition more often than people of African descent.

The test is performed in the first few days of life with a blood sample, usually from the heel. While it may seem difficult to allow a newborn to have a painful blood test, and some mothers cry as much as babies when this happens, it’s absolutely necessary. Parents can be silent carriers, and the complications of this untreated condition can be devastating.

A diagnosis of phenylketonuria means eating differently for the rest of your life. This begins in infancy because breast milk and most formulas contain phenylalanine. Special phenylalanine-free infant formula is required to promote healthy development. Children and adults with PKU need education to find out which foods to avoid, and there are even cookbooks that can help you get the most out of a PKU diet. Diet advice should come from doctors and nutritionists or from the cookbooks they recommend. Many food products such as diet sodas carry warning labels because they contain phenylalanines.

It was common medical wisdom that people with phenylketonuria could take occasional breaks from PKU diets. Most doctors no longer recommend it. Also, if you have PKU and become pregnant, it’s very important to stick to a phenylalanine-free diet. The presence of high levels of this amino acid can create significant problems for the developing fetus.

One of the challenges associated with PKU may be that it is more expensive to follow a PKU diet. Depending on where you live, some financial aid may be available to low-income families who need to buy things like special formula. On the other hand, early detection and adherence to a PKU diet means that many people with the condition live very normal and healthy lives.

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