Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes
Abstract Background Maple 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 me...
Збережено в:
| Автори: | , , , , , , , |
|---|---|
| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
BMC
2025-11-01
|
| Серія: | Orphanet Journal of Rare Diseases |
| Предмети: | |
| Онлайн доступ: | https://doi.org/10.1186/s13023-025-04043-1 |
| Теги: |
Немає тегів, Будьте першим, хто поставить тег для цього запису!
|