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

Journal Title: Istanbul Medical Journal - Year 2019, Vol 20, Issue 4

Abstract

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. Methods: Patients who were referred to our clinic with a prediagnosis of PMD disorder (n=163) from primary health care institutions were included in the study. Results: The median age of the patients on admission was 3 months (range: 0-25 months). It was observed that the samples were resent to the newborn screening program at a rate of 68.1%. The sensitivity and specificity of FIA for phenylalanine (Phe) with a cut-off value of 2.95 mg/dL were 73.3% and 78.6%, respectively. The sensitivity and specificity of MS/MS for Phe with a cut-off value of ≥94.94 μmol/L were 93.3% and 92.2%, respectively. Conclusion: 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. 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.

Authors and Affiliations

Halil Kazanasmaz, Meryem Karaca

Keywords

Related Articles

The Effects of Resistance and Aerobic Exercises on Adiponectin, Insulin Resistance, Lipid Profile and Body Composition in Adolescent Boys with Obesity

Introduction: This present study aimed to examine the effects of long-term resistance exercise (REG) and aerobic exercise (AEG) on the adiponectin, insulin resistance, lipid profile and body composition in adolescent boy...

The Importance of Arcuate Foramen, A Variation of the Atlas: A Microsurgical Cadaveric Study and Review of the Literature

Introduction: Arcuate foramen (AF) is an osseous variation located on the vertebral artery (VA) groove (sulcus arteriae vertebralis) at the posterior arch of the atlas. Its prevalence may vary due to regional and ethnic...

Comparison of Cutting Diathermy and Scalpel in Terms of Delay in Wound Healing and Scar Appearance in Skin Incision: A Prospective Observational Study

Introduction: Traditionally, a scalpel is used for surgical incisions. The aim of this study was to compare cutting diathermy and scalpel in terms of wound healing or cosmetic appearance in skin incision. Methods: The s...

Association between Mean Platelet Volume and Bone Mineral Density in Rheumatoid Arthritis

Introduction: This study aimed to evaluate the mean platelet volume (MPV) levels in rheumatoid arthritis (RA) and determine whether there is a relationship between MPV and bone mineral density (BMD) measurement. Methods...

Determination of Vestibulo-ocular Reflex Gain Normal Values in Children with Video Head Impuls Test

Introduction: Video head impuls test (vHIT) is used in the diagnosis of vestibular dysfunction. There is no study conducted on vHIT application and its results on children in our country. Our study aimed to examine vHIT...

Download PDF file
  • EP ID EP675498
  • DOI 10.4274/imj.galenos.2019.53189
  • Views 139
  • Downloads 0

How To Cite

Halil Kazanasmaz, Meryem Karaca (2019). Comparison of Fluorometric İmmunoassay and Tandem Mass Spectrometry Methods Used in the Diagnosis of Phenylalanine Metabolism Disorders in Turkish Children. Istanbul Medical Journal, 20(4), -. https://www.europub.co.uk/articles/-A-675498