Erschienen in:
28.11.2018 | Editorial
Synaptic metabolism and brain circuitries in inborn errors of metabolism
verfasst von:
Àngels García-Cazorla, Rafael Artuch, Àlex Bayès
Erschienen in:
Journal of Inherited Metabolic Disease
|
Ausgabe 6/2018
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Excerpt
More than 300 new inborn errors or metabolism (IEM) have been described during the last 5 years and most of them have major neurological symptoms (Ferreira et al.
2018; Saudubray and Garcia-Cazorla
2018). These disorders have changed paradigms transforming the concept and classification of IEM and are contributing enormously to our understanding of mechanisms in neurological diseases. A pioneer initiative in this direction was the description of the vast new group of complex lipid synthesis and remodelling defects that stands at the frontier between classical IEM and cellular neurobiology (Lamari et al.
2015). More recently, many defects affecting systems involved in intracellular vesiculation, trafficking, processing and quality control of complex molecules, such as protein folding and autophagy (Ebrahimi-Fakhari et al.
2016), have described a number of diseases with important repercussion in the brain. …