The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

• Published in: Molecular genetics and metabolism reports Vol. 9; pp. 61 - 66
• Main Authors: Opladen, Thomas, Cortès-Saladelafont, Elisenda, Mastrangelo, Mario, Horvath, Gabriella, Pons, Roser, Lopez-Laso, Eduardo, Fernández-Ramos, Joaquín A., Honzik, Tomas, Pearson, Toni, Friedman, Jennifer, Scholl-Bürgi, Sabine, Wassenberg, Tessa, Jung-Klawitter, Sabine, Kuseyri, Oya, Jeltsch, Kathrin, Kurian, Manju A., Garcia-Cazorla, Àngels
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.12.2016; Elsevier
• Subjects: Dopamine; GABA; Glycine; Guideline; Network; Neurotransmitter; Patient registry; Research Paper; Serine; Serotonin; AADC; VMAT; MAOA; Serine; DßH; Glycine; TPH; PSAT; Network; Database; Patient registry; SSADH; SR; PTPS; Dopamine; Serotonin; DHPR; Guideline; NKH; BH4; AR/ADGTPCH; DHFR; 5-MTHF; NOS; 3-PGDH; 3-PGH; TH; DAT; PAH; 3-PSP; GABA; Neurotransmitter; FOLR1; DßH, dopamine β-hydroxylase; 3-PSP, 3-phosphoserine phosphatase; PSAT, phosphoserine aminotransferase; PAH, phenylalanine hydroxylase; AR/ADGTPCH, autosomal recessive/dominant GTP-cyclohydrolase deficiency; GABA, gamma aminobutyric acid; BH4, tetrahydrobiopterin; NKH, nonketotic hyperglycinemia; TH, tyrosine hydroxylase; AADC, aromatic l-amino acid decarboxylase; SSADH, succinic semialdehyde dehydrogenase; PTPS, 6-pyruvoyl-tetrahydropterin synthase; DHPR, dihydropteridine reductase; DAT, dopamine transporter; MAOA, monoamine oxidase A; TPH, tryptophan hydroxylase; DHFR, dihydrofolate reductase deficiency; FOLR1, folate receptor alpha; NOS, nitric oxide synthase; VMAT, vesicular monoamine transporter; 3-PGH, 3-phosphoglycerat dehydrogenase; 3-PGDH, 3-phosphoglycerat dehydrogenase; 5-MTHF, 5-methyltetrahydrofolate; SR, sepiapterin reductase
• ISSN: 2214-4269; 2214-4269
• DOI: 10.1016/j.ymgmr.2016.09.006

Neurotransmitters 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.