Inherited metabolic epilepsies–established diseases, new approaches

Abstract: Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity. These characteristics make it particularly challenging to establish their targeted therapies, and many of the IMEs are treated nowadays only symptomatically and supportively. However, owing to immense molecular and genetic progress in the last decades, important features of their pathomechanisms have been elucidated. This has led to advancements in the development of novel diagnostic approaches and specific therapies for a considerable number of these unique disorders. This review provides an overview of the broad approach to the diagnosis and management of IMEs, along with their eminent and new individual treatment options, ranging from dietary therapies and vitamins to enzyme and gene replacement therapies.

Link to article: https://onlinelibrary.wiley.com/doi/full/10.1002/epi4.13121

PubMed:  https://pubmed.ncbi.nlm.nih.gov/39729084/

Authors: Itay Tokatly Latzer, Phillip L. Pearl

Key Terms: General Creatine, Basic Science, Non-CCDS Diseases