Tyrosine Metabolism (Homo sapiens)

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1333Hawkinsinuria (HAWK)Tyrosinaemia Type ITyrosinaemia Type IIITyrosinaemia Type Iquinol acetateHawkinsinThiols32Homogentisate[CO2]4-hydroxyphenylpyruvate hydroxylase2Succinylacetone4-hydroxyphenylpyruvate dioxygenase4-MaleylacetoacetateFumarylacetoacetaseFumarateAcetoacetateHomogentisate 1,2-dioxygenase4-HydroxyphenylpyruvateTyrosinenitisoneTyrosine aminotransferase4-HydroxyphenylacetateSuccinylacetoacetate4-fumarylacetoacetate(2-)Porphobilinogenp-Hydroxyphenyllactate5-AminolevulinateAlkaptonuria


Description

This pathway shows the tyrosine degradation pathway as presented in Chapter 2 of the book of Blau (ISBN 3642403360 (978-3642403361)). Disorders resulting from an enzyme defect are highlighted in pink. Red frames mark diagnostically important metabolites.

Quality Tags

Ontology Terms

 

Bibliography

  1. Item CB, Mihalek I, Lichtarge O, Jalan A, Vodopiutz J, Muhl A, Bodamer OA; ''Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III.''; Mol Genet Metab, 2007 PubMed Europe PMC
  2. 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
  3. Brownlee JM, Heinz B, Bates J, Moran GR; ''Product analysis and inhibition studies of a causative Asn to Ser variant of 4-hydroxyphenylpyruvate dioxygenase suggest a simple route to the treatment of Hawkinsinuria.''; Biochemistry, 2010 PubMed Europe PMC

History

View all...
CompareRevisionActionTimeUserComment
106201view12:09, 16 August 2019MaintBotHMDB identifier normalization
104393view13:59, 23 May 2019GMKeulenAdded Rhea identifiers and CheBi identifiers
104019view17:35, 25 April 2019IreneHemelModified description
102787view13:24, 24 January 2019EgonwReplaced secondary ChEBI IDs with primary IDs.
102783view10:23, 24 January 2019DeSlOntology Term : 'alkaptonuria pathway' added !
102782view10:23, 24 January 2019DeSlOntology Term : 'alkaptonuria' added !
102781view10:22, 24 January 2019DeSlCreated unique ref for Pubmed 20677779
102780view10:18, 24 January 2019DeSlAdded lit. ref for reaction to Hawkinsin.
102779view10:04, 24 January 2019DeSlAdded side reaction to Hawkinsin.
102777view09:25, 24 January 2019DeSlChanged layout, added last disease, converted lines to disease node to graphical lines.
102759view12:50, 23 January 2019L DupuisModified description
102758view12:47, 23 January 2019L DupuisFramed diagnostically important metabolites
102757view12:42, 23 January 2019L DupuisAdded reference
102756view12:36, 23 January 2019L DupuisLinked omim ids to the disorders
102755view12:24, 23 January 2019L DupuisConverted interaction lines to graphical interface lines to indicate a point where pathology could occur
102754view11:56, 23 January 2019L DupuisConnected unconnected lines
102753view10:06, 23 January 2019L DupuisOntology Term : 'inherited metabolic disorder' added !
102752view10:04, 23 January 2019L DupuisOntology Term : 'tyrosine metabolic pathway' added !
102751view10:03, 23 January 2019L DupuisOntology Term : 'tyrosine degradation pathway' added !
102750view09:58, 23 January 2019L DupuisNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
4-HydroxyphenylacetateMetaboliteCHEBI:18101 (ChEBI)
4-HydroxyphenylpyruvateMetaboliteCHEBI:36242 (ChEBI)
4-MaleylacetoacetateMetaboliteCHEBI:17105 (ChEBI)
4-fumarylacetoacetate(2-)MetaboliteHMDB62563 (HMDB)
4-hydroxyphenylpyruvate dioxygenaseProteinA0A0B4J1R4 (Uniprot-TrEMBL) HPD gene, without mutation
4-hydroxyphenylpyruvate hydroxylaseProteinA0A0B4J1R4 (Uniprot-TrEMBL) HPD gene, with mutation p.Asn241Ser, leading to a change in function in the protein.
5-AminolevulinateMetaboliteCHEBI:17549 (ChEBI)
AcetoacetateMetaboliteCHEBI:15344 (ChEBI)
FumarateMetaboliteCHEBI:18012 (ChEBI)
FumarylacetoacetaseProteinP16930 (Uniprot-TrEMBL)
HawkinsinMetabolite173909 (PubChem-compound) aka 2-cystenyl-1,4-dihydroxycyclohexenylacetate
Homogentisate 1,2-dioxygenaseProteinQ93099 (Uniprot-TrEMBL)
HomogentisateMetaboliteCHEBI:16169 (ChEBI)
PorphobilinogenMetaboliteCHEBI:17381 (ChEBI)
SuccinylacetoacetateMetaboliteCHEBI:87999 (ChEBI)
SuccinylacetoneMetaboliteCHEBI:87897 (ChEBI)
ThiolsMetaboliteCHEBI:29256 (ChEBI)
Tyrosine aminotransferaseProteinP17735 (Uniprot-TrEMBL)
TyrosineMetaboliteCHEBI:18186 (ChEBI)
[CO2]MetaboliteCHEBI:16526 (ChEBI)
nitisoneMetaboliteCHEBI:50378 (ChEBI) AKA NTBC
p-HydroxyphenyllactateMetaboliteCHEBI:36659 (ChEBI)
quinol acetateMetaboliteCHEBI:31128 (ChEBI) This compound is annotated with an example for quinol acetate (4-hydroxyphenyl acetate).

Annotated Interactions

No annotated interactions

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