Methylmalonyl Coenzyme A (CoA) Epimerase Deficiency, an Ultra-Rare Cause of Isolated Methylmalonic Aciduria With Predominant Neurological Features

Methylmalonyl coenzyme A (CoA) epimerase (MCE) converts D-methylmalonyl-CoA into L-methylmalonyl CoA in the final common degradation pathway of valine, isoleucine, methionine, threonine, odd-chain fatty acids, and cholesterol side chains. Methylmalonyl-CoA epimerase deficiency is an ultra-rare autos...

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Detalles Bibliográficos
Autores principales: Diogo, Rui, Rua, Inês B, Ferreira, Sara, Nogueira, Célia, Pereira, Cristina, Rosmaninho-Salgado, Joana, Diogo, Luísa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10687495/
https://www.ncbi.nlm.nih.gov/pubmed/38034150
http://dx.doi.org/10.7759/cureus.48017

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