Introduction: 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 results: 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.
Conclusion: 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.
Keywords: 3-PGDH, 3-phosphoglycerat dehydrogenase; 3-PGH, 3-phosphoglycerat dehydrogenase; 3-PSP, 3-phosphoserine phosphatase; 5-MTHF, 5-methyltetrahydrofolate; AADC, aromatic l-amino acid decarboxylase; AR/ADGTPCH, autosomal recessive/dominant GTP-cyclohydrolase deficiency; BH4, tetrahydrobiopterin; DAT, dopamine transporter; DHFR, dihydrofolate reductase deficiency; DHPR, dihydropteridine reductase; Database; Dopamine; DßH, dopamine β-hydroxylase; FOLR1, folate receptor alpha; GABA; GABA, gamma aminobutyric acid; Glycine; Guideline; MAOA, monoamine oxidase A; NKH, nonketotic hyperglycinemia; NOS, nitric oxide synthase; Network; Neurotransmitter; PAH, phenylalanine hydroxylase; PSAT, phosphoserine aminotransferase; PTPS, 6-pyruvoyl-tetrahydropterin synthase; Patient registry; SR, sepiapterin reductase; SSADH, succinic semialdehyde dehydrogenase; Serine; Serotonin; TH, tyrosine hydroxylase; TPH, tryptophan hydroxylase; VMAT, vesicular monoamine transporter.