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

Kazanasmaz, Halil; Karaca, Meryem

doi:10.4274/imj.galenos.2019.53189

Istanbul Med J

2019

DOI: 10.4274/imj.galenos.2019.53189

|View full text |Cite

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

Halil Kazanasmaz¹,

Meryem Karaca²

Abstract: Amaç: Fenilketonüri (FKU), önlenebilir zihinsel geriliğin yaygın nedenlerinden biridir. Bu nedenle, hastalığın erken tespiti ile başlatılan diyet ve/veya kofaktör tedavisi, klinik açıdan çok önemlidir. Bu çalışmada, fenilalanin metabolizma bozukluğu (FMB) tanısında kullanılan floresans immünolojik testi (FIA), tandem kütle spektrometrisi (MS/MS) ve plazma amino asit analiz (AAA) yöntemlerinin özgüllüğü ve duyarlılığı karşılaştırıldı. Yöntemler: Birinci basamak sağlık kurumlarından FMB (n=163) ön tanısıyla klin… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...

Citation Types

Supporting

Mentioning

Contrasting

Year Published

2023

Publication Types

Select...

Article1

Relationship

Self Cite0

Independent1

Authors

Journals

Cited by 1 publication

References 15 publications

(25 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

Comparison of Tandem Mass Spectrometry and the Fluorometric Method—Parallel Phenylalanine Measurement on a Large Fresh Sample Series and Implications for Newborn Screening for Phenylketonuria

Perko

Grošelj

Čuk

et al. 2023

IJMS

View full text Add to dashboard Cite

Phenylketonuria (PKU) was the first disease to be identified by the newborn screening (NBS) program. Currently, there are various methods for determining phenylalanine (Phe) values, with tandem mass spectrometry (MS/MS) being the most widely used method worldwide. We aimed to compare the MS/MS method with the fluorometric method (FM) for measuring Phe in the dried blood spot (DBS) and the efficacy of both methods in the NBS program. The FM was performed using a neonatal phenylalanine kit and a VICTOR2TMD fluorometer. The MS/MS method was performed using a NeoBaseTM 2 kit and a Waters Xevo TQD mass spectrometer. The Phe values measured with the MS/MS method were compared to those determined by the FM. The cut-off value for the NBS program was set at 120 µmol/L for FM and 85 µmol/L for MS/MS. We analyzed 54,934 DBS. The measured Phe values varied from 12 to 664 µmol/L, with a median of 46 µmol/L for the MS/MS method and from 10 to 710 µmol/L, with a median of 70 µmol/L for the FM. The Bland–Altman analysis indicated a bias of −38.9% (−23.61 µmol/L) with an SD of 21.3% (13.89 µmol/L) when comparing the MS/MS method to the FM. The Phe value exceeded the cut-off in 187 samples measured with FM and 112 samples measured with MS/MS. The FM had 181 false positives, while the MS/MS method had 106 false positives. Our study showed that the MS/MS method gives lower results compared to the FM. Despite that, none of the true positives would be missed, and the number of false-positive results would be significantly lower compared to the FM.

show abstract

Comparison of Tandem Mass Spectrometry and the Fluorometric Method—Parallel Phenylalanine Measurement on a Large Fresh Sample Series and Implications for Newborn Screening for Phenylketonuria

Perko

Grošelj

Čuk

et al. 2023

IJMS

View full text Add to dashboard Cite

show abstract

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

hi@scite.ai

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

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

Cited by 1 publication

References 15 publications

Comparison of Tandem Mass Spectrometry and the Fluorometric Method—Parallel Phenylalanine Measurement on a Large Fresh Sample Series and Implications for Newborn Screening for Phenylketonuria

Comparison of Tandem Mass Spectrometry and the Fluorometric Method—Parallel Phenylalanine Measurement on a Large Fresh Sample Series and Implications for Newborn Screening for Phenylketonuria

Contact Info

Product

Resources

About