Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature:Strategies for optimization

Maple syrup urine disease (MSUD) leads to severe neurological deterioration unless diagnosed early and treated immediately. We have evaluated the effectiveness of 11 years of MSUD newborn screening (NBS) in the Netherlands (screening >72 hours, referral if both total leucine (Xle) and valine ≥400 μmol/L blood) and have explored possibilities for improvement by combining our data with a systematic literature review and data from Collaborative Laboratory Integrated Reports (CLIR). Dutch MSUD NBS characteristics and accuracy were determined. The hypothetical referral numbers in the Dutch popul... Mehr ...

Verfasser: Stroek, Kevin
Boelen, Anita
Bouva, Marelle J
De Sain-van der Velden, Monique
Schielen, Peter C J I
Maase, Rose
Engel, Henk
Jakobs, Bernadette
Kluijtmans, Leo A J
Mulder, Margot F
Rubio-Gozalbo, M E
van Spronsen, Francjan J
Visser, Gepke
de Vries, Maaike C
Williams, Monique
Heijboer, Annemieke C
Kemper, Evelien A
Bosch, Annet M
Dokumenttyp: Artikel
Erscheinungsdatum: 2020
Reihe/Periodikum: Stroek , K , Boelen , A , Bouva , M J , De Sain-van der Velden , M , Schielen , P C J I , Maase , R , Engel , H , Jakobs , B , Kluijtmans , L A J , Mulder , M F , Rubio-Gozalbo , M E , van Spronsen , F J , Visser , G , de Vries , M C , Williams , M , Heijboer , A C , Kemper , E A & Bosch , A M 2020 , ' Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature : Strategies for optimization ' , JIMD reports , vol. 54 , no. 1 , pp. 68-78 . https://doi.org/10.1002/jmd2.12124
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-27205974
Datenquelle: BASE; Originalkatalog
Powered By: BASE
Link(s) : https://cris.maastrichtuniversity.nl/en/publications/3b3ffd79-6791-46ce-9248-c43e3f918573

Maple syrup urine disease (MSUD) leads to severe neurological deterioration unless diagnosed early and treated immediately. We have evaluated the effectiveness of 11 years of MSUD newborn screening (NBS) in the Netherlands (screening >72 hours, referral if both total leucine (Xle) and valine ≥400 μmol/L blood) and have explored possibilities for improvement by combining our data with a systematic literature review and data from Collaborative Laboratory Integrated Reports (CLIR). Dutch MSUD NBS characteristics and accuracy were determined. The hypothetical referral numbers in the Dutch population of additional screening markers suggested by CLIR were calculated. In a systematic review, articles reporting NBS leucine concentrations of confirmed patients were included. Our data showed that NBS of 1 963 465 newborns identified 4 MSUD patients and led to 118 false-positive referrals (PPV 3.28%; incidence 1:491 000 newborns). In literature, leucine is the preferred NBS parameter. Total leucine (Xle) concentrations (mass-spectrometry) of 53 detected and 8 false-negative patients (sampling age within 25 hours in 3 patients) reported in literature ranged from 288 to 3376 (median 900) and 42 to 325 (median 209) μmol/L blood respectively. CLIR showed increasing Xle concentrations with sampling age and early NBS sampling and milder variant MSUD phenotypes with (nearly) normal biochemical profiles are causes of false-negative NBS results. We evaluated the effect of additional screening markers and established the Xle/phenylalanine ratio as a promising additional marker ratio for increasing the PPV, while maintaining high sensitivity in the Dutch MSUD NBS.