Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.

ABSTRACT: Single gene disorders of the autophagy pathway are an emerging, novel and diverse group of multisystem diseases in children. Clinically, these disorders prominently affect the central nervous system at various stages of development, leading to brain malformations, developmental delay, intellectual disability, epilepsy, movement disorders, and neurodegeneration, among others. Frequent early and severe involvement of the central nervous system puts the paediatric neurologist, neurogeneticist, and neurometabolic specialist at the forefront of recognizing and treating these rare conditions. On a molecular level, mutations in key autophagy genes map to different stages of this highly conserved pathway and thus lead to impairment in isolation membrane (or phagophore) and autophagosome formation,

SUBMITTER: Ebrahimi-Fakhari D 

PROVIDER: S-EPMC5841365 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature