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:

• DNAJC12 deficiency

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