Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes
This 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.
Authors
- Manal Nicolas‐Jilwan (ORCID: https://orcid.org/0000-0002-5701-5997)
- Raashda A. Sulaiman (ORCID: https://orcid.org/0000-0002-6868-9823)
- Mohamed Al‐Owain
- Zuhair Nasser Al-Hassnan (ORCID: https://orcid.org/0000-0002-7173-2044)
- Ruqaiah Altassan (ORCID: https://orcid.org/0000-0003-0146-8169)
- Randa Al‐Shammari
- Moeenaldeen Al‐Sayed
- Aamir N. Sheikh
Institutions
- Alfaisal University (SA)
- King Faisal Specialist Hospital & Research Centre (SA)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-11-19
- DOI
- https://doi.org/10.1186/s13023-025-04043-1
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00