Tyrosine metabolism and related disorders (Homo sapiens)

From WikiPathways

Revision as of 13:24, 24 January 2019 by Egonw (Talk | contribs)
Jump to: navigation, search
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 978-3-642-40337-8). Disorders resulting from an enzyme defect are highlighted in pink. Red frames mark diagnostically important metabolites.

Try the New WikiPathways

View approved pathways at the new wikipathways.org.

Quality Tags

Ontology Terms

 

Bibliography

View all...
  1. Blau, Nenad, Duran, Marinus, Gibson, K. Michael, Dionisi-Vici, Carlo; ''Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases''; , 2014
  2. 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 Scholia
  3. Hao Yang, Walla Al-Hertani, Denis Cyr, Rachel Laframboise, Guy Parizeault, Shu Pei Wang, Francis Rossignol, Marie-Thérèse Berthier, Yves Giguère, Paula J Waters, Grant A Mitchell, Québec NTBC Study Group; ''Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency''; J Med Genet ., 2017 PubMed Europe PMC Scholia
  4. 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 Scholia
  5. Natalie M Hendrikse, Albin Holmberg Larsson, Stefan Svensson Gelius, Sergei Kuprin, Erik Nordling, Per-Olof Syrén; ''Exploring the therapeutic potential of modern and ancestral phenylalanine/tyrosine ammonia-lyases as supplementary treatment of hereditary tyrosinemia''; Sci Rep . , 2020 PubMed Europe PMC Scholia
  6. K Tomoeda, H Awata, T Matsuura, I Matsuda, E Ploechl, T Milovac, A Boneh, C R Scott, D M Danks, F Endo; ''Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria ''; Mol Genet Metab ., 2000 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
128203view01:58, 29 January 2024EweitzSoften disease color
123552view13:52, 3 August 2022DeSlUpdate Swissprot to Trembl for linkouts
123551view13:51, 3 August 2022DeSlOntology Term : 'hawkinsinuria pathway' added !
123550view13:51, 3 August 2022DeSlOntology Term : 'hawkinsinuria' added !
123549view13:50, 3 August 2022DeSlModified title
123548view13:15, 3 August 2022DeSlLayout changes
123546view13:13, 3 August 2022DeSlAdded new disorder from Edition 5, more details on potential treatment for TT1 (PAL/TAL).
123545view12:24, 3 August 2022DeSlAdded additional variant info on HPD in comments
123544view12:19, 3 August 2022DeSlAddeds ne wlit. ref for HPD gene
123543view12:15, 3 August 2022DeSlAdded approved UniProt ID for 4-hydroxyphenylpyruvate dioxygenase (HPD) without mutation
120405view09:18, 30 November 2021Fehrhartboxed pathway node
119315view13:19, 23 June 2021FinterlyAdded ISBN for book citation
117186view10:20, 18 May 2021EweitzModified title
114404view16:21, 9 January 2021DeSlOntology Term : 'tyrosinemia pathway' added !
114403view16:21, 9 January 2021DeSlOntology Term : 'tyrosinemia type II pathway' added !
114402view16:21, 9 January 2021DeSlOntology Term : 'tyrosinemia type II' added !
114401view16:20, 9 January 2021DeSlFixed typo for Type II.
114400view16:19, 9 January 2021DeSlOntology Term : 'tyrosinemia type III pathway' added !
114399view16:18, 9 January 2021DeSlOntology Term : 'tyrosinemia type III' added !
114398view16:18, 9 January 2021DeSlOntology Term : 'tyrosinemia type I pathway' added !
114397view16:18, 9 January 2021DeSlOntology Term : 'tyrosinemia type I' added !
114396view16:17, 9 January 2021DeSlOntology Term : 'PW:0000013' removed !
114395view16:17, 9 January 2021DeSlAdded biomarker vis. to legend.
114394view16:14, 9 January 2021DeSlAdded legend.
108293view17:08, 4 December 2019AgustinGVfix width and realign Succinylacetone
108292view17:07, 4 December 2019AgustinGV
108076view11:46, 28 November 2019FehrhartOntology Term : 'disease pathway' added !
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

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP4506"
Personal tools