What is it about?
Phenylketonuria is one of the common causes of preventable mental retardation. Therefore, dietary and/ or cofactor therapy initiated by early detection of the disease is of great clinical importance. In this study, the specificity and sensitivity of fluorescence immunoassay (FIA), tandem mass spectrometry (MS/MS) and plasma amino acid analysis methods used in the diagnosis of phenylalanine metabolism disorder (PMD) were compared.
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Why is it important?
The use of MS/MS instead of FIA for the detection of phenylalanine metabolism disorder in the neonatal screening program may be effective in preventing the diagnostic delay.
Perspectives
A clinical delay was detected in the diagnosis of the cases. Because of this clinical delay, it is considered that the samples in the screening program are repeated frequently and that families do not have enough information about the disease. In our study, it was shown that MS/MS was more effective than FIA.
Halil Kazanasmaz
Harran Universitesi
Read the Original
This page is a summary of: Comparison of Fluorometric İmmunoassay and Tandem Mass Spectrometry Methods Used in the Diagnosis of Phenylalanine Metabolism Disorders in Turkish Children, July 2019, Journal of Clinical Research of Pediatric Endocrinology,
DOI: 10.4274/imj.galenos.2019.53189.
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