In 2013 the initiative "International Working Group on Neurotransmitter Related Disorders (iNTD)” was founded. It includes 37 metabolic centers from 24 countries and consists of three Networks.
- Angeles Garcia Cazorla (Barcelona)
- Thomas Opladen (Heidelberg)
- Manju Kurian (London)
The major goal of Network I is to set-up a web-based patient registry for inherited defects of biogenic amines, pterin, folate, serine, glycine an GABA metabolism. This aims to provide a basis for improving our understanding of the epidemiology, genotype/phenotype correlation and outcome of these diseases, their impact on the quality of life of patients, and for evaluating diagnostic and therapeutic strategies ( ► Patient registry).
Based on the evaluation of current known diagnostic and therapeutic strategies, consensus care guidelines will be developed.
Following diseases will be included:
Ø Neurotransmitter disorders
- Aromatic amino acid decarboxylase (AADC) deficiency
- Tyrosine hydroxylase (TH) deficiency
- Dopamine beta-hydroxylase (DßH) deficiency
- Monoamine oxidase A (MAOA) deficiency
- Dopamine transporter (DAT) deficiency
- Vesicular monoamine transporter 2 (VMAT) deficiency
Ø BH4 Deficiencies
- Autosomal recessive GTP cyclohydrolase deficiency
- Autosomal dominant GTP cyclohydrolase deficiency (Segawa disease)
- 6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency
- Dihydropteridine reductase (DHPR) deficiency
- Sepiapterin reductase (SR) deficiency
Ø Cerebral folate deficiencies
- Folate receptor alpha (FOLR1) deficiency
- Dihydrofolate reductase (DHFR) deficiency
Ø Serine deficiency disorders:
- 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency
- 3-phosphoserine phosphatase (3-PSP) deficiency
- Phosphoserine aminotransferase deficiency
Ø Disorders of glycine metabolism:
- Glycine encephalopathy, also known as Non-ketotic hyperglycinaemia
Ø GABA related disorders
- Succinate-semialdehyde-dehydroxylase deficiency
Network II works on developing of a web-based working-platform and information portal about pediatric neurology including neurotransmitter and cellular neurochemistry.
The working area of Network III is focused on defining clinical scales to develop Parkinsonism-Dystonia–Rating-Scales.
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