Description of the project

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.

Steering committee:
- 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:
⇒ 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
⇒ 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
⇒ Cerebral folate deficiencies
-          Folate receptor alpha (FOLR1) deficiency
-          Dihydrofolate reductase (DHFR) deficiency
⇒ Serine deficiency disorders:
-          3-phosphoglycerate dehydrogenase (3-PGDH) deficiency
-          3-phosphoserine phosphatase (3-PSP) deficiency
-          Phosphoserine aminotransferase deficiency
⇒ Disorders of glycine metabolism:
-          Glycine encephalopathy, also known as Non-ketotic hyperglycinaemia
⇒ GABA related disorders
-          GABA-transaminase-deficiency
-          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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