Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine (Homo sapiens)

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dihydropteridine reductase deficiencyPCDsepiapterinHVAO2PTPTPHHO-BH4phenylalanine-4-hydroxylase deficiency7,8-BH2Dopaminetyrosine hydroxylase deficiencyCRSerotonintyrNeopterinPAHoxo-PH4AADCdihydrofolate reductase deficiencyBH4Phepterin-4a-carbinolamine dehydratasen deficiencyNH2TPGTP cyclohydrolase deficiency5-OH-TrpDopa-responsive dystoniaBiopterin6-pyruvoyl-tetrahydropterin synthase deficiencyDHPRsepiapterin reductase deficiencyTHaromatic l-amino acid decarboxylase deficiencyPTPSTrpGTPCH5HIAAPrimapterinPhenyl-alanineq-BH2GTPDHFRSRL-DOPAO2SRSR


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.

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Ontology Terms



  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


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111782view13:40, 7 September 2020DeSlUpdated Ec ID for tryptophan hydroxylase
111627view06:16, 31 August 2020EgonwModified description
111626view06:15, 31 August 2020EgonwModified title
108075view11:44, 28 November 2019FehrhartOntology Term : 'disease pathway' added !
106780view13:26, 17 September 2019MaintBotHMDB identifier normalization
104867view11:54, 21 June 2019Josienlandmancorrected two OMIM references
104403view14:54, 23 May 2019IreneHemelAdded Rhea, ChEBI and Uniprot IDs
104397view14:22, 23 May 2019IreneHemelChanged interactions to graphical lines for diseases
104072view13:37, 2 May 2019DdiglesAdded rhea IDs for TPH and PCD reactions, added/modified ChEBI IDs for molecules in these reactions.
104018view17:35, 25 April 2019IreneHemelModified description
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


View all...
NameTypeDatabase referenceComment
5HIAAMetaboliteHMDB00763 (HMDB) 5-hydroxyindoleacetic acid
6-pyruvoyl-tetrahydropterin synthase deficiency261640 (OMIM) DISEASE
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
Dopa-responsive dystonia600225 (OMIM) DISEASE
DopamineMetaboliteQ170304 (Wikidata)
GTP cyclohydrolase deficiency233910 (OMIM) DISEASE
GTPMetaboliteCHEBI:37565 (ChEBI)
GTPCHGeneProductQ1487359 (Wikidata) GTP cyclohydrolase I
HVAMetaboliteQ903566 (Wikidata) homovanillic acid
L-DOPAMetaboliteQ300989 (Wikidata)
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:1420 (ChEBI)
THProteinQ420766 (Wikidata) tyrosine hydroxylase
TPHProteintryptophan hydroxylase (Enzyme Nomenclature) tryptophan hydroxylase
TrpMetaboliteQ181003 (Wikidata)
aromatic l-amino acid decarboxylase deficiency606843 (OMIM) DISEASE
dihydrofolate reductase deficiency126060 (OMIM) DISEASE
dihydropteridine reductase deficiency261630 (OMIM) DISEASE
phenylalanine-4-hydroxylase deficiency261600 (OMIM) DISEASE
pterin-4a-carbinolamine dehydratasen deficiency264070 (OMIM) DISEASE
q-BH2MetaboliteCHEBI:38797 (ChEBI) Dihydrobiopterin
sepiapterin reductase deficiency182125 (OMIM) DISEASE
sepiapterinMetaboliteQ2271580 (Wikidata)
tyrMetaboliteQ188017 (Wikidata)
tyrosine hydroxylase deficiency191290 (OMIM) DISEASE

Annotated Interactions

No annotated interactions

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