Diseases caused by neurometabolic disorders often lead to diagnostic difficulties, because of their rarity and numerous quantity. Things get even more complicated by the fact that a complete list and classification of the iNMDs does not exist in literature today.
Considering the lack of information and the knowledge fragmentation in the field of iNMDs, the project concentrated its initial effort in the identification of the Diseases belonging to the iNMDs category. InNerMeD partners agreed with the following definition of iNMDs:
Inherited NeuroMetabolic Diseases (iNMDs) are genetic metabolic disorders showing clinical neurologic/cognitive symptoms at any time during the disease progression.
It is quite evident that the identification of iNMDs is not an easy task, in particular, when referring to the neurological component. To better exploit the specific diseases categorization, a global list of identified inherited metabolic diseases has been produced, and for each disease a peculiar examination of the neurological involvement has been performed.