Neurotransmitters are chemical messengers which mediate, amplify, or modulate synaptic transmissions between neurons, meaning that many are involved in primary brain functions such as movement, pain threshold, memory, and so on. The are various disorders associated with neurotransmitter dysfunction, which may also be caused by defects in the neurotransmitter transporters. This pathway describes various defects including deficiencies of tyrosine hydrolyse (TH), aromatic l-amino acid decarboxylase (AADC), dopamine Beta-Hydroxylase (DBH), monoamine oxidase A, as well as the heredity dopamine transporter syndrome and the brain dopamine-serotonin vesicular transporter (VMAT2) disease. This pathway was inspired by Edition 5, Chapter 19 of the book of Blau (ISBN 9783030677268) (Ed.4 Chapter 31).

Authors

Ann Friesacher , Denise Slenter , Egon Willighagen , Kristina Hanspers , Irene Hemel , Martina Summer-Kutmon , Eric Weitz , and Finterly Hu

Cited In

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Organism

Homo sapiens

Communities

Diseases Inherited Metabolic Disorders (IMD) Pathways Rare Diseases

Annotations

Disease Ontology: aromatic L-amino acid decarboxylase deficiency dopamine beta-hydroxylase deficiency dystonia Parkinsonism Brunner Syndrome

Pathway Ontology: tryptophan metabolic pathway Segawa syndrome pathway dopamine biosynthetic pathway tryptophan degradation pathway serotonin biosynthetic pathway dopamine degradation pathway epinephrine degradation pathway serotonin metabolic pathway aromatic L-amino acid decarboxylase deficiency pathway dopamine beta-hydroxylase deficiency pathway epinephrine biosynthetic pathway neurotransmitter metabolic pathway tyrosine metabolic pathway epinephrine metabolic pathway dopamine metabolic pathway tyrosine degradation pathway

Participants

References

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2. Synthesis and recycling of tetrahydrobiopterin in endothelial function and vascular disease. Crabtree MJ, Channon KM. Nitric Oxide. 2011 Aug 1;25(2):81–8. PubMed Europe PMC Scholia
3. Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and Treatment. Brennenstuhl H, Jung-Klawitter S, Assmann B, Opladen T. Neuropediatrics. 2019 Feb;50(1):2–14. PubMed Europe PMC Scholia