Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening
Maple syrup urine disease (MSUD), a life-threatening metabolic disorder, is included in newborn screening (NBS) programs worldwide. The study aims to evaluate the impact of NBS on the long-term outcome of MSUD patients.We performed a prospective, national, multicenter, observational study.In the stu...
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
August 2024
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| In: |
Pediatrics
Year: 2024, Jahrgang: 154, Heft: 2, Pages: 1-11 |
| ISSN: | 1098-4275 |
| DOI: | 10.1542/peds.2023-064370 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1542/peds.2023-064370 Verlag, lizenzpflichtig, Volltext: https://publications.aap.org/pediatrics/article/154/2/e2023064370/197666/Treatment-Outcomes-for-Maple-Syrup-Urine-Disease?autologincheck=redirected 
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| Verfasserangaben: | Katharina Mengler, MD, Sven F. Garbade, PhD, Florian Gleich, Dipl.VW, Eva Thimm, MD, Petra May, MD, Martin Lindner, MD, Natalia Lüsebrink, MD, Thorsten Marquardt, MD, Vanessa Hübner, MD, Johannes Krämer, MD, Julia Neugebauer, MD, Skadi Beblo, MD, Claus Gillitzer, MD, Sarah C. Grünert, MD, Julia B. Hennermann, MD, Clemens Kamrath, MD, Iris Marquardt, MD, Andrea Näke, MD, Simona Murko, MD, Sebastian Schmidt, MD, Elena Schnabel, MD, Svenja Lommer-Steinhoff, PhD, Georg F. Hoffmann, MD, Jan Beime, MD, René Santer, MD, Stefan Kölker, MD, Ulrike Mütze, MD |
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| 520 | |a Maple syrup urine disease (MSUD), a life-threatening metabolic disorder, is included in newborn screening (NBS) programs worldwide. The study aims to evaluate the impact of NBS on the long-term outcome of MSUD patients.We performed a prospective, national, multicenter, observational study.In the studied NBS cohort (N = 33; 22 classic MSUD [cMSUD], 11 variant MSUD [vMSUD]; median age at last visit 10.4 years), 32 (97%) patients survived, 58% of them had normal cognitive functions (median IQ 87). Initial peak leucine increased linearly with age in cMSUD (median: 1712 µmol/L), but not in vMSUD. Global IQ correlated inversely with the initial peak leucine concentration (P = .04; β = -0.0081) and the frequency of decompensations (P = .02; β = -9.133). A cluster analysis identified 2 subgroups differing in their long-term metabolic control (median leucine concentration: 162 vs 278 µmol/L; P < .001). In cMSUD, lower leucine concentrations were associated with a higher IQ (95.5 vs 80; P = .008). Liver transplantation (median age 5.8 years) was not associated with better cognitive outcome. NBS is highly sensitive for cMSUD, but vMSUD might be missed (N = 2 missed by NBS).NBS and the early start of treatment improve survival and long-term outcome in individuals with cMSUD. Disease severity is an important modifier of outcome; however, the time to NBS report and the quality of long-term metabolic control had an independent impact on cognitive outcome, highlighting the importance of an early diagnosis and the quality of treatment. | ||
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