Uncommonly Missed Diagnosis of Methylmalonic Acidemia (MMA) in Adults and Usefulness of Testing for MMA in Cases of Seizures/Neuropathy/Weakness/Ataxia

Methylmalonic acidemia (MMA) is a genetic condition affecting cobalamin metabolism causing elevated serum and urine methylmalonic acid without B12 deficiency. MMA presents with ketoacidotic hyperammonemic coma in newborns and can result in neonatal death or severe neurological disability. Rarely, th...

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Detalles Bibliográficos
Autores principales: Cocuzzo, Brianna, Kalirao, Sonia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10666653/
https://www.ncbi.nlm.nih.gov/pubmed/38022369
http://dx.doi.org/10.7759/cureus.47577

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10666653/
https://www.ncbi.nlm.nih.gov/pubmed/38022369
http://dx.doi.org/10.7759/cureus.47577

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