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 (www.intd-registry.org).
Based on the evaluation of current known diagnostic and therapeutic strategies, consensus care guidelines will be developed.
Following diseases will be included:
Biogenic amines 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 deficiencies:
- 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
Co-Chaperone deficiencies:
For further information about the iNTD study please contact Dr. Kathrin Jeltsch (study coordinator).
Study Coordinators: Thomas Opladen, Oya Kuseyri Hübschmann, Kathrin Jeltsch, Florian Gleich