Maple Syrup Urine Disease: An Uncommon Cause of Neonatal Febrile Seizures

Maple syrup urine disease (MSUD) is a rare autosomal-recessive disorder. An enzyme complex called branched-chain alpha-keto acid dehydrogenase (BCKAD) metabolizes branched-chain amino acids (BCAAs), such as leucine, isoleucine, and valine, in the body. The deficiency of this enzyme causes the accumu...

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Detalles Bibliográficos
Autores principales: K K, Harshyenee, Ajmera, Pranav, Agarwal, Aastha, Dahiya, Ajay, Parripati, Vinay Kumar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10363028/
https://www.ncbi.nlm.nih.gov/pubmed/37489218
http://dx.doi.org/10.7759/cureus.40826

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10363028/
https://www.ncbi.nlm.nih.gov/pubmed/37489218
http://dx.doi.org/10.7759/cureus.40826

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