Comparison of Fluorometric Immunoassay and Tandem Mass Spectrometry Methods Used in the Diagnosis of Phenylalanine Metabolism Disorders in Turkish Children

Kazanasmaz H., Karaca M.

ISTANBUL MEDICAL JOURNAL, cilt.20, ss.279-284, 2019 (ESCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 20 Konu: 4
  • Basım Tarihi: 2019
  • Doi Numarası: 10.4274/imj.galenos.2019.53189
  • Dergi Adı: ISTANBUL MEDICAL JOURNAL
  • Sayfa Sayıları: ss.279-284

Özet

Introduction: 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.