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

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• 作者：Thomas Opladen^a ; ^{Thomas.opladen@med.uni-heidelberg.de} ; Elisenda Cortè ; s-Saladelafont^b ; Mario Mastrangelo^c ; Gabriella Horvath^d ; Roser Pons^e ; Eduardo Lopez-Laso^f ; Joaquí ; n A. Ferná ; ndez-Ramos^f ; Tomas Honzik^g ; Toni Pearson^h ; Jennifer Friedmanⁱ ; Sabine Scholl-Bü ; rgi^j ; Tessa Wassenberg^k ; Sabine Jung-Klawitter^a ; Oya Kuseyri^a ; Kathrin Jeltsch^a ; Manju A. Kurian^l ; À ; ngels Garcia-Cazorla^b ; on behalf of the International Working Group on Neurotransmitter related disorders (iNTD)
• 关键词：AADC ; aromatic l-amino acid decarboxylase ; AR/ADGTPCH ; autosomal recessive/dominant GTP-cyclohydrolase deficiency ; BH4 ; tetrahydrobiopterin ; DAT ; dopamine transporter ; Dß ; H ; dopamine β-hydroxylase ; DHFR ; dihydrofolate reductase deficiency ; DHPR ; dihydropteridine reductase ; FOLR1 ; folate receptor alpha ; GABA ; gamma aminobutyric acid ; MAOA ; monoamine oxidase A ; 5-MTHF ; 5-methyltetrahydrofolate ; NKH ; nonketotic hyperglycinemia ; NOS ; nitric oxide synthase ; PAH ; phenylalanine hydroxylase ; 3-PGDH
• 刊名：Molecular Genetics and Metabolism Reports
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：9
• 期：Complete
• 页码：61-66
• 全文大小：316 K
• 卷排序：9

文摘

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.Methods and resultsThe 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.ConclusionThe 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.