Metabolic evaluation of XXXX : summary recommendations of the Amalfi Group.

@entity209 @entity1 @entity410 @entity302
The purpose of this symposium was to bring together the disciplines of clinical neurology and metabolic investigation and to present the most up-to-date information about specific @entity209 associated with @entity302 . Understanding the etiology of @entity410 is the key to rational intervention. It is only with this insight that progress in the treatment of these @entity1 can be made. In the past, many @entity302 were described by their clinical features, without understanding of the underlying pathophysiology. In the future, it is hoped that the genetic and metabolic bases of these syndromes will be more completely defined such that reliable diagnostic and effective treatment methods are available. Most of the tests listed in Table 2 should not be performed without due consideration of the history, clinical findings, and results of prior studies. This article is intended to aid clinicians in reviewing potential metabolic diagnoses and to approaching metabolic evaluations in an economical, logical, and comprehensive manner. Although the field of @entity209 may be in its infancy, many of these disorders can be identified and treated. The task for investigators is to provide the armamentarium of diagnostic tools to clinicians to ensure that a @entity209 is not overlooked. There must be a common ground that links clinicians and basic researchers in an evolving and collaborative manner.
