The nervous system is a major target in inborn errors of metabolism (IEM). Neuro-metabolic disorders constitute an expanding and complex field in which it is difficult to acquire a specific education and training
From the perspective of IEM specialists, disorders presenting exclusively with neurological manifestations generally have a more difficult diagnostic approach than IEM’s affecting other organs. From the neurologist’s perspective, IEM are less common and neurologist’s often do not have specific training. Furthermore, metabolic diseases may present with neurological signs such as isolated mental retardation, dystonia or ataxia, which are very common and mono specific symptoms of many different neurological disorders. Moreover, neurological manifestations of IEM are frequently complex, variable, difficult to classify, not always properly described in the medical literature, and in most of the cases they represent a combination of different clinical signs that cannot be explained by a simple neuro-anatomic approach.
This course is specifically targeted towards paediatric neurologists and metabolic specialists.
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