Synaptic metabolism: a new approach to inborn errors of neurotransmission

Journal of Inherited Metabolic Disease
A Tristán-Noguero, Àngels García-Cazorla

Abstract

To date, inborn errors of neurotransmitters have been defined based on the classic concept of inborn error of metabolism (IEM), and they include defects in synthesis, catabolism, and transport pathways. However, the omics era is bringing insights into new diseases and is leading to an extended definition of IEM including new categories and mechanisms. Neurotransmission takes place at the synapse, the most specialized tight junction in the brain. The concept of "synaptic metabolism" would point to the specific chemical composition and metabolic functions of the synapse. Based on these specialized functions, we aim to provide a tentative overview about the major categories of IEM susceptible to affect neurotransmission. Small molecule defects (biogenic amines and amino acids) and energy defects are amongst the most prevalent diseases reported to disturb the concentration of CSF neurotransmitters. In these IEM, the neurological phenotypes have been largely described. Disorders of complex molecules are not typically considered as diseases affecting neurotransmission. However, most of them have been recently discovered and are involved in intracellular vesiculation, trafficking, processing, and quality control mechanisms. In this la...Continue Reading

References

May 1, 1987·European Journal of Pediatrics·K Tada, K Hayasaka
May 26, 2006·Orphanet Journal of Rare Diseases·Jean-Michel Senard, Philippe Rouet
Aug 11, 2007·Journal of Child Neurology·Phillip L PearlAlex Sokohl
Jun 19, 2008·Mitochondrion·Angels Garcia-CazorlaRafael Artuch
Jan 28, 2009·Journal of Inherited Metabolic Disease·C ManegoldF Hörster
Jan 6, 2010·EMBO Molecular Medicine·Emma DeasNicholas W Wood
Jan 7, 2010·Journal of Inherited Metabolic Disease·Megumi TsujiHitoshi Osaka
Jan 28, 2010·Human Mutation·Katherine J DickAndrew H Crosby
Mar 31, 2010·Pflügers Archiv : European journal of physiology·Aristea S Galanopoulou
May 1, 2010·Brain : a Journal of Neurology·Michèl A WillemsenRon A Wevers
Sep 8, 2010·Movement Disorders : Official Journal of the Movement Disorder Society·Thomas OpladenNicole Wolf
Sep 21, 2010·Journal of Inherited Metabolic Disease·Elisa De GrandisAngels García-Cazorla
Jan 6, 2012·Current Opinion in Neurobiology·Victor Anggono, Richard L Huganir
Feb 1, 2013·The New England Journal of Medicine·Jennifer J RilstoneBerge A Minassian
Mar 14, 2013·Developmental Medicine and Child Neurology·Marta Molero-LuisUNKNOWN Neurotransmitter Working Group
Dec 19, 2013·Journal of Neurochemistry·Shunhui WeiWeiping Han
Jan 8, 2014·IUBMB Life·Anthony E Pegg
Mar 8, 2014·Communicative & Integrative Biology·David SotoAlex Bayés
Mar 20, 2014·Glycobiology·Hilary Scott, Vladislav M Panin
Apr 4, 2014·Journal of Inherited Metabolic Disease·Clara MarecosManju A Kurian
Jun 26, 2014·Expert Opinion on Therapeutic Patents·Werner J GeldenhuysFayez F Safadi
Jan 6, 2015·Developmental Medicine and Child Neurology·Phillip L PearlK Michael Gibson
Sep 24, 2015·Nature Reviews. Neurology·Joanne NgManju A Kurian
Nov 4, 2015·Annals of Neurology·Simone OlgiatiVincenzo Bonifati
Dec 10, 2015·Molecular Genetics and Metabolism·Gabriella A HorvathClara D M van Karnebeek
Apr 8, 2016·Neuron·Elsa LauwersPatrik Verstreken
May 18, 2016·Parkinsonism & Related Disorders·Torge RempeThilo van Eimeren
May 31, 2016·American Journal of Human Genetics·Marianna MadeoMichael C Kruer
Jan 7, 2017·American Journal of Human Genetics·UNKNOWN EuroEPINOMICS-RES Consortium. Electronic address: euroepinomics-RES@ua.ac.beUNKNOWN EuroEPINOMICS-RES Consortium
Jan 31, 2017·American Journal of Human Genetics·Yair AniksterManuel Schiff
Feb 22, 2017·Translational Psychiatry·I GozesS Bedrosian-Sermone
Mar 13, 2017·Seminars in Pediatric Neurology·E Cortès-SaladelafontA García-Cazorla
Apr 25, 2017·Movement Disorders : Official Journal of the Movement Disorder Society·H DíezÀngels Garcia-Cazorla
Sep 13, 2017·American Journal of Medical Genetics. Part a·My Linh ThibodeauGabriella A Horvath
Oct 25, 2017·BMC Medical Genetics·Yui TakadaShouichi Ohga
Nov 7, 2017·The Journal of Clinical Investigation·Avadh KumarAbdel Ali Belaidi
Jul 18, 2018·Journal of Inherited Metabolic Disease·Àngels García-Cazorla, Jean-Marie Saudubray

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Citations

Mar 19, 2019·Journal of Inherited Metabolic Disease·Jean-Marie SaudubrayAngeles Garcia-Cazorla
Jul 20, 2018·Journal of Inherited Metabolic Disease·Elisenda Cortès-SaladelafontÀngels García-Cazorla
Nov 6, 2020·Movement Disorders : Official Journal of the Movement Disorder Society·Alba Tristán-NogueroÀngels García-Cazorla
Dec 20, 2020·Journal of Inherited Metabolic Disease·Carlos R FerreiraUNKNOWN ICIMD Advisory Group
Feb 19, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Agustí Rodríguez-PalmeroZeynep Tümer

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