Inherited NeuroMetabolic Diseases (iNMDs) represent an important group of Rare Diseases constituted by genetic metabolic disorders showing clinical neurologic/cognitive symptoms at any time of the disease progression. They are among the most serious genetic diseases at early onset that, involving the central nervous system (CNS), progressively lead to the appearance of irreversible disabilities. Many of the available treatments can result efficacious only if they are administered before neurodegeneration becomes irreversible.

Unfortunately, data on iNMDs are scarce as well as poorly disseminated outside the restricted group of experts that are also inadequately connected. At the same time, there is a lack of awareness about these conditions that can delay the diagnosis and the start of the treatment, with consequent tragic results.

In fact, the advancement of knowledge on biochemical and molecular basis of the diseases do have important effect on the development of innovative therapies which may modify the natural history of the disease and slow the neurodegeneration process. In addition, the pharmacogenetic and genetic advancements can make possible pre-symptomatic and, in many cases, prenatal diagnosis.

Increasing awareness is therefore the first crucial step in fighting these conditions.