Methods for diagnosing phenylketonuria in newborns
Abstract
The article presents current data on methods for diagnosing phenylketonuria and measuring phenylalanine in newborns. Much attention is paid to tandem mass spectrometry (TMS), in particular, it is noted that the main advantage of TMS is the fully
automated and simultaneous analysis of amino acids. The machine learning model is described in sufficient detail. Based on their analysis of literature data, the authors conclude that photometric assays or tandem mass spectrometry (TMS) can be used as an alternative to measure phenylalanine in neonates.
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