Phenylketonuria (PKU) is a rare genetic disorder that affects the metabolism of the amino acid phenylalanine. PKU is caused by a deficiency in the enzyme phenylalanine hydroxylase (PAH), which is responsible for converting phenylalanine to tyrosine. When this enzyme is deficient, phenylalanine accumulates in the blood and brain, leading to a variety of symptoms.
The most common symptoms of PKU include intellectual disability, behavioral problems, and a musty odor on the skin and breath. PKU can also cause skin rashes, eczema, and seizures. In severe cases, PKU can lead to brain damage and serious neurological problems. If left untreated, PKU can have serious and long-lasting effects on an individual's health and development.
The treatment for PKU is a strict diet that is low in phenylalanine. This diet is typically started as soon as possible after birth and must be continued throughout life. The diet may include a special formula that is low in phenylalanine, as well as certain foods that are also low in phenylalanine. In addition, PKU patients may also be prescribed with a phenylalanine-free amino acid supplement to ensure that they get enough essential amino acids.
The management of PKU requires close monitoring of blood phenylalanine levels, and regular check-ups with a dietitian, a doctor and a psychologist. With appropriate treatment, PKU can be effectively managed, and individuals with PKU can lead healthy and fulfilling lives. However, if PKU is not diagnosed and treated early, it can have serious consequences.