Maple Syrup Urine Disease Masquerading as Urea Cycle Disorder: A Tale of Two Clinical Mimics

Maple syrup urine disease, an inherited disorder of metabolism, is characterised by deficient activity of the branched-chain alpha-keto acid dehydrogenase complex (BCKAD) enzyme, resulting in an accumulation of branched-chain amino acids. While it is classically diagnosed by the means of a neonatal...

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Detalles Bibliográficos
Autores principales: Rauf, Shahzad, Almas, Talal, Ullah, Irfan, Usman, Norina, Irfan, Muhammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2020
Materias:
Endocrinology/Diabetes/Metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7489313/
https://www.ncbi.nlm.nih.gov/pubmed/32944429
http://dx.doi.org/10.7759/cureus.9706

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7489313/
https://www.ncbi.nlm.nih.gov/pubmed/32944429
http://dx.doi.org/10.7759/cureus.9706

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