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Article

Impact of early diagnosis, disease variant, and quality of care on the neurocognitive outcome in maple syrup urine disease: A meta-analysis.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2025

Scharre Svenja, Mengler Katharina, Schnabel Elena, Kuseyri Hübschmann Oya, Tuncel Ali Tunç, Hoffmann Georg Friedrich, Garbade Sven F, Mütze Ulrike, Kölker Stefan

Abstract excerpt

PURPOSE: Maple syrup urine disease (MSUD) is a rare inherited metabolic disease characterized by recurrent metabolic decompensations, neurocognitive impairment, and limited life expectancy. This meta-analysis aims to evaluate the impact of early diagnosis by newborn screening (NBS) on mortality and neurocognitive outcome in survivors, taking into account the quality of national health care systems. METHODS:...

Read the complete abstract on PubMed

Topics

Maple Syrup Urine Disease
Humans
Early Diagnosis
Neonatal Screening
Infant, Newborn

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Quality of Health Care

Cognition

Female

Phenotype

Source

Identifiers

PMID: 39431354
DOI: 10.1016/j.gim.2024.101303

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