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| Verfasst von: | Reischl-Hajiabadi, Anna Theresa [VerfasserIn]  |
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| | Schnabel-Besson, Elena [VerfasserIn] |
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| | Gleich, Florian [VerfasserIn] |
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| | Mengler, Katharina [VerfasserIn] |
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| | Lindner, Martin [VerfasserIn] |
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| | Burgard, Peter [VerfasserIn] |
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| | Posset, Roland [VerfasserIn] |
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| | Lommer-Steinhoff, Svenja [VerfasserIn] |
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| | Grünert, Sarah [VerfasserIn] |
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| | Thimm, Eva [VerfasserIn] |
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| | Freisinger, Peter [VerfasserIn] |
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| | Hennermann, Julia B. [VerfasserIn] |
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| | Krämer, Johannes [VerfasserIn] |
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| | Gramer, Gwendolyn [VerfasserIn] |
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| | Lenz, Dominic [VerfasserIn] |
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| | Christ, Stine [VerfasserIn] |
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| | Hörster, Friederike [VerfasserIn] |
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| | Hoffmann, Georg F. [VerfasserIn] |
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| | Garbade, Sven [VerfasserIn] |
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| | Kölker, Stefan [VerfasserIn] |
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| | Mütze, Ulrike [VerfasserIn] |
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| Titel: | Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias |
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| Verf.angabe: | Anna T. Reischl-Hajiabadi, Elena Schnabel, Florian Gleich, Katharina Mengler, Martin Lindner, Peter Burgard, Roland Posset, Svenja Lommer-Steinhoff, Sarah C. Grünert, Eva Thimm, Peter Freisinger, Julia B. Hennermann, Johannes Krämer, Gwendolyn Gramer, Dominic Lenz, Stine Christ, Friederike Hörster, Georg F. Hoffmann, Sven F. Garbade, Stefan Kölker, Ulrike Mütze |
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| E-Jahr: | 2024 |
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| Jahr: | July 2024 |
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| Umfang: | 16 S. |
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| Illustrationen: | Illustrationen |
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| Fussnoten: | Erstmals veröffentlicht: 02 April 2024 ; Gesehen am 01.07.2024 |
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| Titel Quelle: | Enthalten in: Journal of inherited metabolic disease |
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| Ort Quelle: | Hoboken, NJ : Wiley, 1978 |
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| Jahr Quelle: | 2024 |
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| Band/Heft Quelle: | 47(2024), 4 vom: Juli, Seite 674-689 |
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| ISSN Quelle: | 1573-2665 |
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| Abstract: | The current German newborn screening (NBS) panel includes 13 inherited metabolic diseases (IMDs). In addition, a NBS pilot study in Southwest Germany identifies individuals with propionic acidemia (PA), methylmalonic acidemia (MMA), combined and isolated remethylation disorders (e.g., cobalamin [cbl] C and methylenetetrahydrofolate reductase [MTHFR] deficiency), cystathionine β-synthase (CBS) deficiency, and neonatal cbl deficiency through one multiple-tier algorithm. The long-term health benefits of screened individuals are evaluated in a multicenter observational study. Twenty seven screened individuals with IMDs (PA [N = 13], MMA [N = 6], cblC deficiency [N = 5], MTHFR deficiency [N = 2] and CBS deficiency [N = 1]), and 42 with neonatal cbl deficiency were followed for a median of 3.6 years. Seventeen screened IMD patients (63%) experienced at least one metabolic decompensation, 14 of them neonatally and six even before the NBS report (PA, cbl-nonresponsive MMA). Three PA patients died despite NBS and immediate treatment. Fifteen individuals (79%) with PA or MMA and all with cblC deficiency developed permanent, mostly neurological symptoms, while individuals with MTHFR, CBS, and neonatal cbl deficiency had a favorable clinical outcome. Utilizing a combined multiple-tier algorithm, we demonstrate that NBS and specialized metabolic care result in substantial benefits for individuals with MTHFR deficiency, CBS deficiency, neonatal cbl deficiency, and to some extent, cbl-responsive MMA and cblC deficiency. However, its advantage is less evident for individuals with PA and cbl-nonresponsive MMA. Synopsis Early detection through newborn screening and subsequent specialized metabolic care improve clinical outcomes and survival in individuals with MTHFR deficiency and cystathionine-β-synthase deficiency, and to some extent in cobalamin-responsive methylmalonic acidemia (MMA) and cblC deficiency while the benefit for individuals with propionic acidemia and cobalamin-nonresponsive MMA is less evident due to the high (neonatal) decompensation rate, mortality, and long-term complications. |
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| DOI: | doi:10.1002/jimd.12731 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext: https://doi.org/10.1002/jimd.12731 |
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| | Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12731 |
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| | DOI: https://doi.org/10.1002/jimd.12731 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | cblC deficiency |
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| | methylmalonic aciduria |
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| | MTHFR deficiency |
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| | neonatal screening |
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| | neonatal vitamin B12 deficiency |
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| | propionic aciduria |
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| K10plus-PPN: | 1892753847 |
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| Verknüpfungen: | → Zeitschrift |
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Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias / Reischl-Hajiabadi, Anna Theresa [VerfasserIn]; July 2024 (Online-Ressource)
