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DIAGNOSIS AND TREATMENT OF PHENYLKETONURIA: OPPORTUNITIES AND PROSPECTS

A review of current data on phenylketonuria (PKU) and the differential diagnosis of various forms of hyperphenylalaninemia (HFA) is presented. There are considered existing worldwide recommendations for the treatment of patients with classical PKU and HFA. Neonatal screening has been shown to provide an early diagnosis of classical PKU and HFA, and the timely appointment and commitment of patients with a hypophenylalanine diet remains to be the main method for preventing CNS damage. Molecular diagnosis of PKU helps to confirm the results of laboratory screening of newborns and facilitates the choice of treatment tactics. Drug therapy with sapropterin is vital for HFA, due to tetrahydrobiopterin deficiency, and may also be applicable in patients with classical PKU.