[Neurometabolic diseases: guidance for neuropaediatricians]

Neurometabolic diseases constitute an area that is both complex and in constant growth. Although they were initially seen as rarities or medical curiosities, their continuous growth and development means that today they have become especially relevant for a number of reasons. On the one hand, they will provide us with a better understanding of the mechanisms involved in neurological diseases, while on the other, their clinical presentation is heterogeneous and often takes the form of symptoms that are highly prevalent in neuropaediatrics, such as ataxia, mental retardation or epilepsy.

Little by little, neurometabolism is providing us with a language that will make it possible to decipher the pathophysiology of neurological diseases regardless of their causation. All this means that neuropaediatricians require permanent education and a set of basic guidelines that can be used to deal with these disorders in clinical practice. The purpose of this paper is to give practical guidance in this sense.