Neurotransmitter disorders (WP4220)
Homo sapiens
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 HuActivity
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Organisms
Homo sapiensCommunities
Diseases Inherited Metabolic Disorders (IMD) Pathways Rare DiseasesAnnotations
Disease Ontology
Parkinsonism dystonia dopamine beta-hydroxylase deficiency aromatic L-amino acid decarboxylase deficiency Brunner SyndromePathway Ontology
neurotransmitter metabolic pathway tyrosine degradation pathway epinephrine biosynthetic pathway dopamine beta-hydroxylase deficiency pathway dopamine degradation pathway serotonin metabolic pathway epinephrine metabolic pathway tryptophan metabolic pathway aromatic L-amino acid decarboxylase deficiency pathway dopamine biosynthetic pathway serotonin biosynthetic pathway tyrosine metabolic pathway Segawa syndrome pathway dopamine metabolic pathway tryptophan degradation pathway epinephrine degradation pathwayLabel | Type | Compact Identifier | Comment |
---|---|---|---|
melatonin | Metabolite | chebi:16796 | |
Dihydroxyphenylacetic acid | Metabolite | chebi:41941 | AKA DOPAC |
5-HIAL | Metabolite | pubchem.compound:74688 | AKA 5-hydroxyindoleacetaldehyde |
Vanillylmandelic acid | Metabolite | chebi:27622 | |
Epinephrine | Metabolite | wikidata:Q132621 | |
3-methoxy-4-hydroxyphenylglycol | Metabolite | wikidata:Q223097 | AKA MHPG, MOPG |
Norepinephrine | Metabolite | chebi:72587 | |
Dopamine | Metabolite | chebi:59905 | |
L-Tyrosine | Metabolite | chebi:58315 | |
Serotonin | Metabolite | chebi:28790 | |
Normetanephrine | Metabolite | wikidata:Q517109 | |
Metanephrine | Metabolite | hmdb:HMDB0004063 | AKA MET |
Vanillactic acid | Metabolite | hmdb:HMDB0000913 | AKA VLA |
Homovanillic acid | Metabolite | chebi:545959 | AKA HVA |
L-Tryptophan | Metabolite | chebi:16828 | |
5-Hydroxytryptophan | Metabolite | chebi:17780 | AKA 5-HTP |
5-Hydroxyindoleacetic acid | Metabolite | chebi:27823 | AKA 5-HIAA |
3-O-methyldopa | Metabolite | chebi:82913 | AKA 3OMD |
3-Methoxytyramine | Metabolite | chebi:1582 | AKA 3MT |
L-Dopa | Metabolite | chebi:57504 | AKA levodopa |
Dopamine | Metabolite | chebi:59905 | |
Serotonin | Metabolite | chebi:28790 | |
Norepinephrine | Metabolite | chebi:72587 | |
PLP | Metabolite | chebi:18405 | AKA Pyridoxal phosphate, cofactor |
BH4 | Metabolite | chebi:30436 | AKA tetrahydropterin, cofactor |
qBH2 | Metabolite | chebi:43120 | AKA tetrahydropterin, cofactor |
BH4 | Metabolite | chebi:30436 | AKA tetrahydropterin, cofactor |
qBH2 | Metabolite | chebi:43120 | AKA tetrahydropterin, cofactor |
BH4 | Metabolite | chebi:30436 | AKA tetrahydropterin, cofactor |
SLC18A2 | GeneProduct | ncbigene:6571 | AKA VMAT2 |
SLC18A2 | GeneProduct | ncbigene:6571 | AKA VMAT2 |
SLC18A2 | GeneProduct | ncbigene:6571 | AKA VMAT2 |
DBH | Protein | uniprot:P09172 | AKA Dopamine beta-hydrocylaseLocated membrane-bound and intra-vesicular [PMID: 30372766] |
Aldehyde dehydrogenase | Protein | eccode:1.2.1.3 | |
SLC6A3 | Protein | uniprot:Q01959 | |
PNMT | Protein | uniprot:P11086 | AKA Phenylethanolamine N-methyltransferase |
TH | Protein | uniprot:P07101 | AKA Tyrosine 3-mono oxygenase, TYH |
MAOA | Protein | ncbigene:4128 | AKA Monoamine oxidase A |
AADC | Protein | uniprot:P20711 | AKA Aromatic L-amino acid decarboxylase, DCC |
MAOA | Protein | ncbigene:4128 | AKA Monoamine oxidase A |
MAOA | Protein | ncbigene:4128 | AKA Monoamine oxidase A |
TPH | Protein | eccode:1.14.16.4 | AKA Tryptophan hydroxylase |
TPH1 | Protein | uniprot:P17752 | AKA Tryptophan hydroxylaseExpressed in skin, gut and pineal gland (tissues where serotonint is expressed), and also in the CNS. |
TPH2 | Protein | uniprot:Q8IWU9 | AKA Tryptophan hydroxylaseExpressed in neuronal cells, and the predominant isoform of the Central Nervous System (CNS). |
COMT | Protein | uniprot:P21964 | AKA Catechol-O- metyltransferase |
COMT | Protein | uniprot:P21964 | AKA Catechol-O- metyltransferase |
References
- Biosynthesis of tetrahydrobiopterin by de novo and salvage pathways in adrenal medulla extracts, mammalian cell cultures, and rat brain in vivo. Nichol CA, Lee CL, Edelstein MP, Chao JY, Duch DS. Proc Natl Acad Sci U S A. 1983 Mar;80(6):1546–50. PubMed Europe PMC Scholia
- 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
- 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