Computational structural genomics and clinical evidence suggest BCKDK gain‐of‐function may cause a potentially asymptomatic maple syrup urine disease phenotype
Abstract Maple syrup urine disease (MSUD) is a disorder of branched‐chain amino acid metabolism caused by a defect in the branched‐chain α‐ketoacid dehydrogenase (BCKD) complex (OMIM #248600). The hallmark presentation is encephalopathic crisis in neonates, but can also present with metabolic decomp...
Kaydedildi:
| Asıl Yazarlar: | , , , , , , |
|---|---|
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Wiley
2024-05-01
|
| Seri Bilgileri: | JIMD Reports |
| Konular: | |
| Online Erişim: | https://doi.org/10.1002/jmd2.12419 |
| Etiketler: |
Etiket eklenmemiş, İlk siz ekleyin!
|