Information about the diseases
Neurotransmitters are a group of chemical messengers that enable the communication between the neurons in the syntactical cleft. For biosynthesis of the biogenic amines dopamine and serotonin, tetrahydrobiopterin (BH4) is an essential cofactor. Folates are chemically similar to BH4 and play a key role in different processes oft the central nervous system.
Inborn neurotransmitters related diseases belong to the treatable rare diseases, with clinical manifestation during childhood. Some of the patients can be identified by newborn screening due to a hyperphenylalaninemia. For neurotransmitter patients, systematic evaluation of the clinical presentation, the diagnostic and therapeutic procedures and prognosis are scare. Furthermore an evaluation of the different treatment options and their influence on the prognosis of the disease don’t exist so far.
The major aim of the iNTD study is to establish the first international patient register for neurotransmitter related disorders. This register will enable detailed analysis of the natural courses of the disease, the diagnostic approaches and the current therapy strategies as well as the quality of life of the affected patients. Besides the extension of the knowledge of these diseases the evaluation of the patient register should contribute to a better treatment and long term diagnosis of the patients.