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Mol Genet Metab Rep. 2016 Oct 20;9:61-66. eCollection 2016 Dec.

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

Author information

1
Division of Child Neurology and Metabolic Diseases, University Children's Hospital Heidelberg, Germany.
2
Department of Child Neurology, Neurometabolic Unit, CIBERER-ISCIII, Hospital Sant Joan de Déu Barcelona, Spain.
3
Department of Pediatrics and Child Neuropsychiatry, Sapienza Università di Roma, Rome, Italy.
4
Division of Biochemical Diseases, BC, Childrens Hospital, Vancouver, Canada.
5
First Department of Pediatrics, Pediatric Neurology Unit, Agia Sofia Hospital, National and Kapodistrian University of Athens, Athens, Greece.
6
Department of Pediatric Neurology, Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Cordoba, Spain.
7
Dep. of Pediatrics, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.
8
Department of Neurology, Washington University School of Medicine, St. Louis, USA.
9
Department of Neurosciences, University of California San Diego, Division of Neurology Rady Children's Hospital, Rady Children's Institute Genomic Medicine, San Diego, USA.
10
Department of Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Anichstrasse 35, 6020 Innsbruck, Austria.
11
Department of Neurology and Child Neurology, Radboudumc Nijmegen, Donders Institute of Brain Cognition and Behaviour, The Netherlands.
12
Developmental Neurosciences, UCL- Institute of Child Health and Department of Neurology, Great Ormond Street Hospital for Children NHS Foundations Trust, London, United Kingdom.

Abstract

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

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