fenylketonuriaa

Fenylketonuria (PKU) is a rare inherited metabolic disorder characterized by the body's inability to break down the amino acid phenylalanine. This condition is caused by a deficiency in the enzyme phenylalanine hydroxylase, which is responsible for converting phenylalanine into tyrosine, another amino acid. The absence or reduction of this enzyme leads to the accumulation of phenylalanine in the blood and tissues, which can cause various health problems.

PKU is typically diagnosed through newborn screening programs, which test for elevated levels of phenylalanine in the blood. Early diagnosis and treatment are crucial to prevent intellectual disability and other complications. The primary treatment for PKU is a strict diet that limits the intake of phenylalanine. This diet typically involves avoiding high-protein foods such as meat, dairy, and eggs, and using special medical foods and formulas that are low in phenylalanine.

If left untreated, PKU can lead to a range of symptoms, including intellectual disability, seizures, behavioral problems, and mental health issues. The severity of these symptoms can vary depending on the level of phenylalanine in the blood and the age at which treatment is initiated. In some cases, individuals with PKU may also develop physical symptoms such as eczema, musty body odor, and lighter skin and hair color.

PKU is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the defective gene (one from each parent) to develop the condition. Genetic counseling and testing can help families understand the risks and make informed decisions about family planning. With proper treatment and management, individuals with PKU can lead healthy and productive lives.