Introduction: Neurodevelopmental Issues in Inborn errors of Metabolism

摘要

Lipids have many vital functions including defining the boundaries between the environment and self, greasing the tracks that carry thoughts and actions across the nervous system, helping generate the energy necessary for life, and modifying proteins to perform multiple structural and signaling activities in the cell. Given these broad roles, it is not surprising that inborn errors of lipid metabolism are a heterogeneous group of conditions with extreme phenotypic variation. Neural lipids play numerous structural and functional roles in the central and peripheral nervous systems and an increasing number of clinical disorders disrupting these processes are being described. The unifying theme in this issue is the critical role of various disorders of lipid metabolism on the nervous system. We review seven groups of disorders with a focus on pathophysiology of the diseases and discuss the neurodevelopmental effects typically seen in them. We also present an overview of the neuroimaging procedures currently used to diagnose and study disorders of lipid metabolism as well as the next generation of techniques likely to become standard of care.