Phenylketonuria and Hyperphenylalaninemia [Article in Bosnian]

Alma Toromanović, Husref Tahirović

Abstract


This is a brief review of the hyperphenylalaninemia and their classifi cation. The classical phenylketonuria is described in some details, along with procedures for treatment and follow up of patients. The other forms of hyperphenylalaninemia are briefl y reviewed, with some more details of the form due to tetrahydrobiopterin defi ciency. In addition, the procedures for the analysis of the results of neonatal screening for phenylketonuria are delineated.


Keywords


Phenylketonuria; hyperphenylalaninemia; screening

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