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
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.
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency
The objective of the study is to evaluate the evolving phenotype and genetic spectrum of patients with succinic semialdehyde dehydrogenase deficiency (SSADHD) in long-term follow-up. Longitudinal clinical and biochemical data of 22 pediatric and 9 [...]
Newborn screening for aromatic l-amino acid decarboxylase deficiency – Strategies, results, and implication for prevalence calculations
Background Aromatic l-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal-recessive neurometabolic disorder caused by variants in dopa decarboxylase (DDC) gene, resulting in a severe combined deficiency of serotonin, dopamine, norepinephrine, and epinephrine. Birth prevalence of [...]
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism
Elevated serum prolactin concentrations occur in inherited disorders of biogenic amine metabolism because dopamine deficiency leads to insufficient inhibition of prolactin secretion. This work from the International Working Group on Neurotransmitter Related Disorders (iNTD) presents [...]
Trusted Partners
Our network consists of clinical and scientific partners throughout the whole world. Find the one close to you!
