Causes and Symptoms of PKU

Phenylketonuria, commonly known as PKU, is a genetic disorder caused by a deficiency in the enzyme phenylalanine hydroxylase. This enzyme is responsible for breaking down the essential amino acid phenylalanine. A mutation in the gene coding for this enzyme results in high levels of phenylalanine building up in the blood. If left untreated, the excess phenylalanine can cause damage to the brain and lead to intellectual and developmental disabilities.

Some key symptoms seen in untreated PKU patients include intellectual disability, poor growth, seizures, behavioral and psychiatric problems, skin rashes, tremors, and musty odor. The symptoms usually appear during the first few years of life if treatment is not started. Newborns are screened for PKU at birth in many countries so treatment can begin right away if a baby tests positive.

Dietary Phenylketonuria Treatment

The standard and most effective treatment for Phenylketonuria Treatment is a phenylalanine-restricted diet that must be followed for life. This dietary restriction allows the levels of phenylalanine in the blood to be controlled and prevents damage to the brain.

The diet involves eliminating foods high in phenylalanine like meat, eggs, dairy products, nuts, and soy. Artificial sweeteners are also avoided because they contain phenylalanine. Low protein foods like fruits, vegetables, breads, and pasta are the main staples. Special phenylalanine-free medical formulas are taken in prescribed amounts to provide sufficient nutrition.

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