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A Targeted Approach

In 2013 the initiative “International Working Group on Neurotransmitter Related Disorders (iNTD)” was founded. 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 and GABA  metabolism.  It includes 42 scientific and clinical partners from 26 countries. 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.  Based on the evaluation of current known diagnostic and therapeutic strategies, consensus care guidelines will be developed.

  • Biogenic amines neurotransmitter disorders

  • BH4 deficiencies

  • Cerebral folate deficiencies

  • Serine deficiencies

  • Disorders of glycine metabolism

  • GABA related disorders

  • Co-Chaperone deficiencies

Our approach

Patients

See how we help to connect affected families

Our approach

Research

Groundbreaking basic science meets clinical research

Research

Latest Publications

Our main goal is to evaluate knowledge from basic sciences and combine it with clinical data gathered using our registry. Ultimately, we want to formulate consensus guidelines for diagnostics and therapeutic strategies.

Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience

Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience Objective: Aromatic L-amino acid decarboxylase (AADC) deficiency is [...]

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Trusted Partners

Our network consists of clinical and scientific partners throughout the whole world. Find the one close to you!

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