What Is Phenylketonuria?

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Phenylketonuria is a rare genetic disorder. An individual with this condition is unable to process an amino acid called phenylalanine. Amino acids are the building blocks of protein, and foods that are high in protein are also high in phenylalanine.

The prevalence of PKU varies across geographic regions and ethnicities around the world. People who are of European or Native American descent have higher rates of the condition than those from other ethnic groups. Most cases of the disorder are detected during newborn screening in the U.S. as well as a number of other countries.

1. What Are the Causes?

PKU is caused by a defective gene. This gene is partly responsible for breaking down the amino acid phenylalanine. This amino acid is present in numerous food sources and aspartame. When the body is unable to process the amino acid, it begins to build up.

As the phenylalanine accumulates, it causes numerous physical and mental health issues. When a baby is born with PKU, the primary source of nutrition is formula or breast milk, both of which are high-protein sources and contain phenylalanine.

Phenylketonuria

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