Neurotransmitter Disorders (Homo sapiens)

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1Monoamine Oxidase A DeficiencyAromatic L-Amino Acid Decarboxylase DeficiencyDopamine Transporter DeficiencyTyrosine Hydroxylase DeficiencyDopamine-Serotonin Vesicular Transport DefectL-DopaTyrosine 3-monooxygenaseDopamine Beta-HydrocylaseMetanephrineHomovanillic acid5-HydroxytryptophanEpinephrineVanillactic acidVanillylmandelic acidDopamine3-MethoxytyramineNormetanephrine5-Hydroxyindoleacetic acidMonoamine Oxidase ASerotoninDihydroxyphenylacetic acidNorepinephrineL-tryptophan3-methoxy-4-hydroxyphenylglycol3-O-methyldopaTyrosineAromatic L-amino aciddecarboxylaseMonoamine Oxidase AMonoamine Oxidase ADopamine Beta- Hydroxylase Deficiency


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 978-3-642-40337-8).

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Ontology Terms



  1. Nenad Blau Marinus Duran K Michael Gibson Carlo Dionisi-Vici; ''Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases''; Springer-Verlag Berlin Heidelberg, 2014


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98921view05:17, 16 October 2018EgonwModified description
98251view09:36, 15 August 2018DeSlFixed layout
98250view09:34, 15 August 2018DeSlChanged layout of disease nodes
97385view03:58, 14 May 2018Khanspersdecreased board height
97384view03:57, 14 May 2018Khanspersdecreased board height
97366view10:07, 11 May 2018DeSlChanged layout, connected 5HTP as side metabolite (like chapter indicates), changed disease nodes to labels (with links).
96271view15:59, 3 March 2018EgonwFixed a datanode misclassification
96217view08:57, 1 March 2018DeSlModified description
96207view09:15, 28 February 2018AnneFriesacherModified description
96188view15:37, 23 February 2018AnneFriesacherAdded comments on diseases, added literature reference
96187view15:23, 23 February 2018AnneFriesacherEdited IDs
96186view15:05, 23 February 2018AnneFriesacher
96185view13:46, 23 February 2018DeSlAdded OMIM IDs for disease
96184view13:43, 23 February 2018DeSlAdded DISEASE info to node
96183view13:34, 23 February 2018AnneFriesacherOntology Term : 'aromatic L-amino acid decarboxylase deficiency' added !
96182view13:33, 23 February 2018AnneFriesacherOntology Term : 'aromatic amino acid decarboxylase deficiency pathway' added !
96181view13:32, 23 February 2018DeSlOntology Term : 'dopamine beta hydroxylase deficiency pathway' added !
96180view13:32, 23 February 2018DeSlOntology Term : 'dopamine beta-hydroxylase deficiency' added !
96179view13:30, 23 February 2018DeSlOntology Term : 'neurotransmitter metabolic pathway' added !
96178view13:26, 23 February 2018AnneFriesacherModified description
96153view17:02, 21 February 2018AnneFriesacherNew pathway

External references


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NameTypeDatabase referenceComment
3-MethoxytyramineMetaboliteCHEBI:1582 (ChEBI)
3-O-methyldopaMetaboliteCHEBI:133668 (ChEBI)
3-methoxy-4-hydroxyphenylglycolMetaboliteQ223097 (Wikidata)
5-Hydroxyindoleacetic acidMetaboliteCHEBI:27823 (ChEBI)
5-HydroxytryptophanMetaboliteCHEBI:17780 (ChEBI)
Aromatic L-amino acid decarboxylaseProteinP20711 (Uniprot-TrEMBL)
Dihydroxyphenylacetic acidMetaboliteCHEBI:41941 (ChEBI)
Dopamine Beta- HydrocylaseGeneProductENSG00000123454 (Ensembl)
DopamineMetaboliteCHEBI:18243 (ChEBI)
EpinephrineMetaboliteQ132621 (Wikidata)
Homovanillic acidMetaboliteCHEBI:545959 (ChEBI)
L-DopaMetaboliteCHEBI:15765 (ChEBI)
L-tryptophanMetaboliteCHEBI:16828 (ChEBI)
MetanephrineMetaboliteHMDB04063 (HMDB)
Monoamine Oxidase AMetabolite4128 (Entrez Gene)
NorepinephrineMetaboliteCHEBI:18357 (ChEBI)
NormetanephrineMetaboliteQ517109 (Wikidata)
SerotoninMetaboliteCHEBI:28790 (ChEBI)
Tyrosine 3-mono oxygenaseProteinE7EQI0 (Uniprot-TrEMBL)
TyrosineMetaboliteCHEBI:18186 (ChEBI)
Vanillactic acidMetaboliteHMDB00913 (HMDB)
Vanillylmandelic acidMetaboliteCHEBI:27622 (ChEBI)

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