Opladen, ThomasCortès-Saladelafont, ElisendaMastrangelo, MarioHorvath, GabriellaPons, RoserLopez-Laso, EduardoFernández-Ramos, Joaquín AHonzik, TomasPearson, ToniFriedman, JenniferScholl-Bürgi, SabineWassenberg, TessaJung-Klawitter, SabineKuseyri, OyaJeltsch, KathrinKurian, Manju AGarcia-Cazorla, ÀngelsInternational Working Group on Neurotransmitter related disorders (iNTD)2025-01-072025-01-072016-10-202214-4269https://hdl.handle.net/10668/27101Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of very rare neurometabolic diseases resulting in neurological impairment at any age from newborn to adulthood. The International Working Group on Neurotransmitter related Disorders (iNTD) is the first international network focusing on the study of primary and secondary neurotransmitter disorders. It was founded with the aim to foster exchange and improve knowledge in the field of these rare diseases. The newly established iNTD patient registry for neurotransmitter related diseases collects longitudinal data on the natural disease course, approach to diagnosis, therapeutic strategies, and quality of life of affected patients. The registry forms the evidence base for the development of consensus guidelines for patients with neurotransmitter related disorders. The iNTD network and registry will improve knowledge and strengthen research capacities in the field of inborn neurotransmitter disorders. The evidence-based guidelines will facilitate standardized diagnostic procedures and treatment approaches.enAttribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/3-PGDH, 3-phosphoglycerat dehydrogenase3-PGH, 3-phosphoglycerat dehydrogenase3-PSP, 3-phosphoserine phosphatase5-MTHF, 5-methyltetrahydrofolateAADC, aromatic l-amino acid decarboxylaseAR/ADGTPCH, autosomal recessive/dominant GTP-cyclohydrolase deficiencyBH4, tetrahydrobiopterinDAT, dopamine transporterDHFR, dihydrofolate reductase deficiencyDHPR, dihydropteridine reductaseDatabaseDopamineDßH, dopamine β-hydroxylaseFOLR1, folate receptor alphaGABAGABA, gamma aminobutyric acidGlycineGuidelineMAOA, monoamine oxidase ANKH, nonketotic hyperglycinemiaNOS, nitric oxide synthaseNetworkNeurotransmitterPAH, phenylalanine hydroxylasePSAT, phosphoserine aminotransferasePTPS, 6-pyruvoyl-tetrahydropterin synthasePatient registrySR, sepiapterin reductaseSSADH, succinic semialdehyde dehydrogenaseSerineSerotoninTH, tyrosine hydroxylaseTPH, tryptophan hydroxylaseVMAT, vesicular monoamine transporterresearch article27830117open access10.1016/j.ymgmr.2016.09.006PMC5094101https://doi.org/10.1016/j.ymgmr.2016.09.006https://pmc.ncbi.nlm.nih.gov/articles/PMC5094101/pdf