Neurotransmitter disorders (WP4220)

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 Chapter 31 (neurotransmitter Disorders) of the book of Blau (ISBN 3642403360 (978-3642403361)).
last edited


AnneFriesacher, DeSl, Egonw, Khanspers, IreneHemel, Mkutmon, MaintBot, Eweitz, and Finterly

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Homo sapiens


Diseases Inborn Errors of Metabolism (IEM) Pathways Rare Diseases


Pathway Ontology: aromatic L-amino acid decarboxylase deficiency pathway neurotransmitter metabolic pathway dopamine beta-hydroxylase deficiency pathway

Disease Ontology: dopamine beta-hydroxylase deficiency aromatic L-amino acid decarboxylase deficiency


Label Type Compact Identifier
Dihydroxyphenylacetic acid Metabolite chebi:41941
Vanillylmandelic acid Metabolite chebi:27622
Epinephrine Metabolite wikidata:Q132621
3-methoxy-4-hydroxyphenylglycol Metabolite wikidata:Q223097
Norepinephrine Metabolite chebi:72587
Dopamine Metabolite chebi:59905
L-Tyrosine Metabolite chebi:58315
Dopamine beta-hydrocylase Protein uniprot:P09172
Serotonin Metabolite chebi:28790
Normetanephrine Metabolite wikidata:Q517109
Metanephrine Metabolite hmdb:HMDB0004063
Vanillactic acid Metabolite hmdb:HMDB0000913
Homovanillic acid Metabolite chebi:545959
L-Tryptophan Metabolite chebi:16828
5-Hydroxytryptophan Metabolite chebi:17780
5-Hydroxyindoleacetic acid Metabolite chebi:27823
3-O-methyldopa Metabolite chebi:133668
3-Methoxytyramine Metabolite chebi:1582
Tyrosine 3-monooxygenase Protein uniprot:P07101
Monoamine oxidase A Protein ncbigene:4128
L-Dopa Metabolite chebi:57504
Aromatic L-amino aciddecarboxylase Protein uniprot:P20711
Monoamine oxidase A Metabolite ncbigene:4128
Monoamine oxidase A Metabolite ncbigene:4128


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