Phenylketonuria

Phenylketonuria (PKU) is a rare inherited metabolic disorder. In this condition, the body is unable to break down phenylalanine, an amino acid found in many protein-rich foods. This happens due to a lack of the enzyme phenylalanine hydroxylase (PAH). If phenylalanine builds up in the blood and brain, it can cause serious neurological damage.

PKU is usually detected through newborn screening. This allows treatment to start early. Without proper management, high phenylalanine levels can cause intellectual disability, seizures, behavioural problems, and developmental delays.

Some people with PKU may need medications in addition to a low-phenylalanine diet. The cornerstone of treatment is a lifelong low-phenylalanine diet, supported by special medical foods (SMFs) that provide essential nutrients without phenylalanine.

When PKU is diagnosed early and managed consistently, children can grow well, learn normally, and lead healthy, active lives.