Biosynthesis and regeneration of tetrahydrobiopterin (BH4) and catabolism of phenylalanine, including diseases (Homo sapiens)

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1GTP cyclohydrolase deficiencyBH4oxo-PH4DHFRGTPCHTHHVA5HIAAPAHPhePCDTrpDHPRO2HO-BH4SRPTPSPTPAADCDopaminetyrBiopterinCRSerotoninNH2TPPrimapterin7,8-BH2NeopterinPhenyl-alanineL-DOPAsepiapterinTPHGTP5-OH-Trpq-BH2O2SRSRDopa-responsive dystonia6-pyruvoyl-tetrahydropterin synthase deficiencysepiapterin reductase deficiencyphenylalanine-4-hydroxylase deficiencydihydrofolate reductase deficiencydihydropteridine reductase deficiencypterin-4a-carbinolamine dehydratasen deficiencytyrosine hydroxylase deficiencyaromatic l-amino acid decarboxylase deficiency


Description

This pathway shows disorders related to phenylalanine and tetrahydrobiopterin(BH4) metabolism. Disorders resulting from an enzyme defect are highlighted in pink. Pathological metabolites used as specific markers are highlighted in purple. BH4 is a natural cofactor for PAH, tyrosine-3-hydroxylase, tryptophan-5-hydroxylase and nitric oxide synthase (NOS), where the latter two are key enzymes in the biosynthesis of the neurotransmitters dopamine and serotonin. This pathway was inspired by Chapter 1 of the book of Blau (ISBN 978-3-642-40337-8).

Quality Tags

Ontology Terms

 

Bibliography

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

History

View all...
CompareRevisionActionTimeUserComment
98949view12:20, 17 October 2018DeSlModified description
98253view09:47, 15 August 2018DeSlModified description
98248view09:16, 15 August 2018DeSlChanged all disease nodes to textlabels, with linkouts to OMIM
96451view09:30, 15 March 2018EgonwReplaced a secondary ChEBI identifier with a primary identifier.
94865view15:19, 10 October 2017DeSlAdded lit. ref
94864view15:16, 10 October 2017DeSlOntology Term : 'Bh4-deficient hyperphenylalaninemia A' added !
94863view15:15, 10 October 2017DeSlOntology Term : 'aromatic L-amino acid decarboxylase deficiency' added !
94862view15:14, 10 October 2017DeSlOntology Term : 'phenylalanine degradation pathway' added !
94861view15:14, 10 October 2017DeSlOntology Term : 'tetrahydrobiopterin metabolic pathway' added !
94860view15:13, 10 October 2017DeSladded ID for AADC
94859view15:11, 10 October 2017DeSlAdded OMIM IDs for diseases
94858view15:06, 10 October 2017DeSlChanged database to Wikidata for several nodes
94857view15:03, 10 October 2017DeSlModified description
94856view15:02, 10 October 2017DeSlModified description
94855view14:56, 10 October 2017DeSlNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
5-OH-TrpMetabolite
5HIAAMetaboliteHMDB00763 (HMDB) 5-hydroxyindoleacetic acid
7,8-BH2MetaboliteQ5276421 (Wikidata) 7,8-dihydrobiopterin
AADCProteinQ421186 (Wikidata) aromatic l-amino acid decarboxylase
BH4MetaboliteCHEBI:30436 (ChEBI) tetrahydropterin
BiopterinMetaboliteQ41793745 (Wikidata)
CRProteinQ1145916 (Wikidata) carbonyl reductase
DHFRProteinQ417149 (Wikidata) dihydrofolate reductase
DHPRProteinQ21145902 (Wikidata) dihydropteridine reductase
DopamineMetaboliteQ170304 (Wikidata)
GTPMetaboliteCHEBI:37565 (ChEBI)
GTPCHGeneProductQ1487359 (Wikidata) GTP cyclohydrolase I
HO-BH4Metabolite
HVAMetaboliteQ903566 (Wikidata) homovanillic acid
L-DOPAMetaboliteQ300989 (Wikidata)
NH2TPMetabolite
NeopterinMetaboliteQ908292 (Wikidata)
O2MetaboliteCHEBI:15379 (ChEBI)
PAHProteinQ420604 (Wikidata) phenylalanine-4-hydroxylase
PCDProtein4.2.1.96 (Enzyme Nomenclature) pterin-4a-carbinolamine dehydratase
PTPMetaboliteQ245508 (Wikidata) 6-pyruvoyl tetrahydropterin
PTPSGeneProductQ7121042 (Wikidata) 6-pyruvoyl-tetrahydropterin synthase
PheMetaboliteCHEBI:28044 (ChEBI)
Phenyl-alanineMetaboliteQ170545 (Wikidata)
PrimapterinMetaboliteQ26261687 (Wikidata)
SRGeneProductQ15331000 (Wikidata) sepiapterin reductase
SerotoninMetaboliteCHEBI:28790 (ChEBI)
THProteinQ420766 (Wikidata) tyrosine hydroxylase
TPHProteintryptophan hydroxylase (Enzyme Nomenclature) tryptophan hydroxylase
TrpMetaboliteQ181003 (Wikidata)
oxo-PH4Metabolite
q-BH2MetaboliteCHEBI:38797 (ChEBI) Dihydrobiopterin
sepiapterinMetaboliteQ2271580 (Wikidata)
tyrMetaboliteQ188017 (Wikidata)

Annotated Interactions

No annotated interactions

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