Fenylketonuriassa

Fenylketonuria, often abbreviated as PKU, is a rare inherited metabolic disorder. It affects how the body processes a particular amino acid called phenylalanine. Amino acids are the building blocks of proteins.

In individuals with PKU, the body cannot properly break down phenylalanine due to a deficiency in the enzyme phenylalanine hydroxylase. This enzyme is responsible for converting phenylalanine into tyrosine, another amino acid. When the enzyme is not working correctly, phenylalanine builds up in the blood and can reach toxic levels. High levels of phenylalanine can be harmful to the brain, leading to intellectual disability, developmental delays, and behavioral problems if left untreated.

PKU is an autosomal recessive disorder, meaning that a person must inherit two copies of the mutated gene, one from each parent, to have the condition. If a person inherits only one copy of the mutated gene, they are a carrier but typically do not show symptoms.

Newborn screening tests are routinely performed on infants to detect PKU shortly after birth. Early diagnosis and treatment are crucial for preventing severe complications. The primary treatment for PKU is a strict lifelong diet that is very low in phenylalanine. This diet involves avoiding high-protein foods like meat, fish, eggs, dairy products, and legumes, and often requires special medical formulas to ensure adequate nutrition. With proper dietary management, individuals with PKU can lead healthy and normal lives.