LC-MS/MS analysis kit for the in-vitro diagnostic quantitative determination of phenylketonuria in human serum & dried blood samples. 

Phenylketonuria (PKU) is an autosomal recessive genetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase (PAH). This enzyme is necessary to metabolize the aminoacid phenylalanine to the amino acid tyrosine. When PAH is deficient, phenylalanine accumulates on the brain tissue and is converted into phenylpyruvate (also known as phenylketone), which is detected in the urine. PAH is found on chromosome number 12. If left untreated, this condition can cause problems with brain development, leading to progressive mental retardation and seizures. However, PKU can be controlled by a special diet with low in phenylalanine and high in tyrosine can be a very effective treatment. There is no cure. The disorder is only detectable after irreversible damage is done hence early diagnosis is crucial. Most babies in developed countries are screened for PKU soon after birth. PKU is usually detected using the HPLC test, but some clinics still use the Guthrie test, as a part of national biochemical screening programs.

Zivak PKU LC-MS/MS kit was developed for quantitative detection of Phenylketonuria in human serum, plasma and dried blood samples. LC-MS/MS is a effective tool for the study of metabolic disorders (e.g. PKU). LC-MS/MS analysis gives results in 2 minutes with minimal sample preparation. Main methods and procedures that is selected by Zivak are based on EN ISO 14971 .