PKUdiagnoosi

PKUdiagnoosi refers to the diagnostic process for Phenylketonuria (PKU). PKU is a rare inherited metabolic disorder that affects how the body breaks down an amino acid called phenylalanine. If left untreated, phenylalanine can build up to harmful levels in the blood and brain, leading to intellectual disability and other health problems.

The diagnosis of PKU is typically made shortly after birth through newborn screening programs. In most developed countries, all newborns are tested for PKU within the first few days of life. This screening usually involves a blood test, where a small sample of blood is collected from the baby's heel and analyzed for high levels of phenylalanine.

If the newborn screening results are abnormal, further diagnostic tests are performed to confirm the diagnosis. These confirmatory tests usually involve another blood test to measure phenylalanine levels more accurately and sometimes genetic testing to identify specific mutations in the PAH gene, which is responsible for PKU. Early diagnosis is crucial for initiating timely treatment and preventing serious complications.