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Insights from Metabolomics Profiling of MSUD in Pediatrics Toward Disease Progression

Background: Maple syrup urine disease (MSUD) is a genetic disorder caused by mutations in the branched-chain α-ketoacid dehydrogenase (BCKDH) complex, leading to toxic buildup of branched-chain amino acids (BCAAs) and their ketoacid derivatives. While newborn screening (NBS) and molecular testing ar...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Abeer Z. Alotaibi, Reem H. AlMalki, Rajaa Sebaa, Maha Al Mogren, Mohammad Alanazi, Khalid M. Sumaily, Ahmad Alodaib, Ahmed H. Mujamammi, Minnie Jacob, Essa M. Sabi, Ahmad Alfares, Anas M. Abdel Rahman
Format: Artigo
Sprache:Inglês
Veröffentlicht: MDPI AG 2025-10-01
Schriftenreihe:Metabolites
Schlagworte:
maple syrup urine disease
neonates
children
dried blood spots
untargeted metabolomics
metabolic profiling
Online-Zugang:https://www.mdpi.com/2218-1989/15/10/658
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