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, Daša (avtor), Grošelj, Urh (avtor), Čuk, Vanja (avtor), Remec, Žiga Iztok (avtor), Žerjav-Tanšek, Mojca (avtor), Drole Torkar, Ana (avtor), Krhin, Blaž (avtor), Biček, Ajda (avtor), Oblak, Adrijana (avtor), Battelino, Tadej (avtor), Repič-Lampret, Barbka (avtor)

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 VICTOR2$^{TM}$ D fluorometer. The MS/MS method was performed using a NeoBase$^{TM}$ 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.

• Jezik: Angleški jezik
• Ključne besede: tandem mass spectrometry, MS/MS, fluorometric method, FM, comparison, phenylalanine, Phe, phenylketonuria, PKU, newborn screening, NBS, false positive results, recall rate
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.01 - Izvirni znanstveni članek
• Organizacija: MF - Medicinska fakulteta
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Leto izida: 2023
• Št. strani: 11 str.
• Številčenje: Vol. 24, iss. 3, art. 2487
• PID: 20.500.12556/RUL-155551
• UDK: 616-053.2
• ISSN pri članku: 1422-0067
• DOI: 10.3390/ijms24032487
• COBISS.SI-ID: 147446787
• Datum objave v RUL: 05.04.2024

PERKO, Daša, GROŠELJ, Urh, ČUK, Vanja, REMEC, Žiga Iztok, ŽERJAV-TANŠEK, Mojca, DROLE TORKAR, Ana, KRHIN, Blaž, BIČEK, Ajda, OBLAK, Adrijana, BATTELINO, Tadej in REPIČ-LAMPRET, Barbka, 2023, 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. International journal of molecular sciences [na spletu]. 2023. Vol. 24, no. 3,  2487. [Dostopano 11 april 2025]. DOI 10.3390/ijms24032487. Pridobljeno s: https://repozitorij.uni-lj.si/IzpisGradiva.php?lang=slv&id=155551

Gradivo je del revije

• Naslov: International journal of molecular sciences
• Skrajšan naslov: Int. j. mol. sci.
• Založnik: MDPI
• ISSN: 1422-0067
• COBISS.SI-ID: 2779162

Licence

• Licenca: CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by/4.0/deed.sl
• Opis: To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.

Sekundarni jezik

• Jezik: Slovenski jezik
• Ključne besede: tandemska masna spektrometrija, MS/MS, fluorometrična metoda, FM, primerjava, fenilalanin, Phe, fenilketonurija, pregled novorojenčka, PKU, lažno pozitivni rezultati, NBS, stopnja odpoklica

Projekti

• Financer: ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
• Številka projekta: P3-0343
• Naslov: Etiologija, zgodnje odkrivanje in zdravljenje bolezni pri otrocih in mladostnikih