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
Abstract 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 va...
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| Format: | Article |
| Language: | English |
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Wiley
2020-07-01
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| Series: | JIMD Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/jmd2.12124 |
| _version_ | 1818656911216607232 |
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| author | Kevin Stroek Anita Boelen Marelle J. Bouva Monique De Sain‐van der Velden Peter C. J. I. Schielen Rose Maase Henk Engel Bernadette Jakobs Leo A. J. Kluijtmans Margot F. Mulder M. E. Rubio‐Gozalbo Francjan J. vanSpronsen Gepke Visser Maaike C. deVries Monique Williams Annemieke C. Heijboer Evelien A. Kemper Annet M. Bosch |
| author_facet | Kevin Stroek Anita Boelen Marelle J. Bouva Monique De Sain‐van der Velden Peter C. J. I. Schielen Rose Maase Henk Engel Bernadette Jakobs Leo A. J. Kluijtmans Margot F. Mulder M. E. Rubio‐Gozalbo Francjan J. vanSpronsen Gepke Visser Maaike C. deVries Monique Williams Annemieke C. Heijboer Evelien A. Kemper Annet M. Bosch |
| author_sort | Kevin Stroek |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-12-17T03:33:06Z |
| format | Article |
| id | doaj.art-7f7bd064509b48dcadfaf828dc4a8fe7 |
| institution | Directory Open Access Journal |
| issn | 2192-8312 |
| language | English |
| last_indexed | 2024-12-17T03:33:06Z |
| publishDate | 2020-07-01 |
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| series | JIMD Reports |
| spelling | doaj.art-7f7bd064509b48dcadfaf828dc4a8fe72022-12-21T22:05:12ZengWileyJIMD Reports2192-83122020-07-01541687810.1002/jmd2.12124Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimizationKevin Stroek0Anita Boelen1Marelle J. Bouva2Monique De Sain‐van der Velden3Peter C. J. I. Schielen4Rose Maase5Henk Engel6Bernadette Jakobs7Leo A. J. Kluijtmans8Margot F. Mulder9M. E. Rubio‐Gozalbo10Francjan J. vanSpronsen11Gepke Visser12Maaike C. deVries13Monique Williams14Annemieke C. Heijboer15Evelien A. Kemper16Annet M. Bosch17Endocrinology Laboratory, Department of Clinical Chemistry Amsterdam Gastroenterology & Metabolism, Amsterdam UMC, University of Amsterdam Amsterdam The NetherlandsEndocrinology Laboratory, Department of Clinical Chemistry Amsterdam Gastroenterology & Metabolism, Amsterdam UMC, University of Amsterdam Amsterdam The NetherlandsReference Laboratory Neonatal Screening, Center for Health protection National Institute for Public Health and the Environment Bilthoven The NetherlandsSection Metabolic Diagnostics, Department of Genetics University Medical Center Utrecht Utrecht The NetherlandsReference Laboratory Neonatal Screening, Center for Health protection National Institute for Public Health and the Environment Bilthoven The NetherlandsReference Laboratory Neonatal Screening, Center for Health protection National Institute for Public Health and the Environment Bilthoven The NetherlandsDepartment of Clinical Chemistry Isala Hospital Zwolle The NetherlandsDepartment of Clinical Chemistry Elisabeth‐Tweesteden Hospital Tilburg The NetherlandsTranslational Metabolic Laboratory, Department of Laboratory Medicine Radboud University Medical Center Nijmegen The NetherlandsDepartment of Pediatrics, Division of Metabolic Disorders Amsterdam UMC, Vrije Universiteit Amsterdam Amsterdam The NetherlandsDepartment of Pediatrics and Clinical Genetics Maastricht University Medical Center Maastricht The NetherlandsDivision of Metabolic Disorders, Beatrix Children's Hospital University Medical Center Groningen, University of Groningen Groningen The NetherlandsWilhelmina Children's Hospital University Medical Center Utrecht Utrecht The NetherlandsDepartment of Pediatrics, Division of Metabolic Disorders Radboud University Medical Center Nijmegen The NetherlandsCenter for Lysosomal and Metabolic diseases, Department of Pediatrics Erasmus Medical Center Rotterdam The NetherlandsEndocrinology Laboratory, Department of Clinical Chemistry Amsterdam Gastroenterology & Metabolism, Amsterdam UMC, University of Amsterdam Amsterdam The NetherlandsDepartment of Clinical Chemistry IJsselland Hospital Capelle aan den IJssel The NetherlandsDepartment of Pediatrics, Division of Metabolic Disorders Amsterdam UMC, University of Amsterdam Amsterdam The NetherlandsAbstract 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.https://doi.org/10.1002/jmd2.12124dried blood spotsleucinemaple syrup urine diseasemass‐spectrometrynewborn screeningpositive predictive value |
| spellingShingle | Kevin Stroek Anita Boelen Marelle J. Bouva Monique De Sain‐van der Velden Peter C. J. I. Schielen Rose Maase Henk Engel Bernadette Jakobs Leo A. J. Kluijtmans Margot F. Mulder M. E. Rubio‐Gozalbo Francjan J. vanSpronsen Gepke Visser Maaike C. deVries Monique Williams Annemieke C. Heijboer Evelien A. Kemper Annet M. Bosch 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 dried blood spots leucine maple syrup urine disease mass‐spectrometry newborn screening positive predictive value |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| topic | dried blood spots leucine maple syrup urine disease mass‐spectrometry newborn screening positive predictive value |
| url | https://doi.org/10.1002/jmd2.12124 |
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