Course: Synaptic metabolism and brain circuitries in IEM: exploring old and new disorders

External Event - 16th to 18th Nov 2017

Synaptic metabolism and brain circuitries in IEM: exploring old and new disorders

Barcelona, Spain 16 – 18 November 2017

The synapse is a highly specialized structure with specific chemical composition and metabolic functions that are necessary for an appropriate neuronal communication and brain development. Neurometabolic diseases are genetic conditions that lead to abnormal concentration and function of different molecules in the brain. Most of them disturb crucial pre and post-synaptic functions and therefore impair neural connectivity and brain circuitries leading to symptoms such as intellectual disability, neuropsychiatric signs, epilepsy, and movement disorders.

Describing how neurometabolic diseases target synapses, synaptic plasticity, and other functions such as excitability and synaptic signaling is a challenge that has been scarcely investigated. Most of our knowledge stays at the “pre-synaptic level” with the description of the biosynthesis and catabolic pathways. In fact most neurometabolic diseases described so far are “pre-synaptic and astrocytic conditions”. However, little is known about the role of very well-known molecules in inborn errors of metabolism such as lactate, ATP, amino acids and lipids, in plasticity, learning functions and excitability, acting through different receptors and signaling pathways. Molecules derived from a particular biochemical pathway at the presynaptic level have in general a continuation at the post-synaptic level and a glia interaction. Should we then consider trans and peri-synaptic communication in the description of whole biochemical pathways in neurometabolic diseases instead of stopping at the pre-synaptic neuron or at the astrocytic level?
Additionally, disrupted synaptic communication are rarely confined to a single locus; instead, they often spread via axonal pathways to influence other neuronal subtypes and anatomic regions, the so-called connectome.

The synaptic approach offers new ways of understanding brain dysfunction and symptoms from a more mechanistic and functional point of view. It integrates our classical metabolic approach into the fields of cellular neurobiology and modern neuroscience. Moreover the description of new disorders and new therapeutic approaches are opened.


To learn the basis of neuronal communication in IEM and to understand that this is not restricted to the synthesis, catabolism and transport of the “classic neurotransmitters”.

To introduce new categories of neurometabolic diseases based on the description of biochemical pathways, trafficking and signaling functions at the synapse, and to recognize the main clinical manifestations.

To learn how neurometabolic diseases affect the brain as a whole system through the study of neuronal connectivity.

Insight into new therapeutic strategies such as neuromodulation in IEM.

Institutes of main organisers - providers

Sant Joan de Déu Hospital, Esplugues de Llobregat, Barcelona

Centre for Childhood and Adolescent Medicine, University Hospital Heidelberg

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