ReviewOrphanet journal of rare diseases2025
Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes.
Review in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed.
- Trial-ready external controls for gene therapy: The MATCH cohort in maple syrup urine disease.Cell reports. Medicine · 2026Article
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMaple syrup urine disease (MSUD) is an inherited neurometabolic disorder caused by a deficiency of branched-chain α-keto acid dehydrogenase complex activity. There is an accumulation of neurotoxic branched-chain amino acids and their corresponding alpha-ketoacids. During acute metabolic decompensation, there is a high risk of mortality due to encephalopathy and cerebral edema, leading to cerebellar herniation. SUBJECTS AND
methodsThis study reviewed the clinical presentation, management, and outcome of adult patients with MSUD who were admitted to our hospital with encephalopathy and cerebral edema during the 8-year study period.
resultsSeven patients were admitted with ten episodes of encephalopathy, and cerebral edema was present during nine episodes. One asymptomatic patient had an elective admission with cerebral edema. Five patients had a full recovery to baseline, while two patients died.
conclusionsThis study describes the variable clinical presentation of cerebral edema in adult patients with MSUD. Early recognition and prompt treatment of encephalopathy is challenging, particularly in adult patients, as the multidisciplinary teams may not be familiar with this rare disease.
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