Tyrosine metabolism and related disorders (Homo sapiens)

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1Tyrosinaemia Type ITyrosinaemia Type IIITyrosinaemia Type IHawkinsinuria (HAWK)Homogentisate[CO2]4-hydroxyphenylpyruvate hydroxylaseSuccinylacetone4-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.

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Quality Tags

Ontology Terms

 

Bibliography

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  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

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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

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NameTypeDatabase referenceComment
4-HydroxyphenylacetateMetaboliteCHEBI:18101 (ChEBI)
4-HydroxyphenylpyruvateMetaboliteCHEBI:36242 (ChEBI)
4-MaleylacetoacetateMetaboliteCHEBI:17105 (ChEBI)
4-fumarylacetoacetate(2-)MetaboliteHMDB62563 (HMDB)
4-hydroxyphenylpyruvate dioxygenaseProteinA0A0B4J1R4 (Uniprot-TrEMBL)
4-hydroxyphenylpyruvate hydroxylase
5-AminolevulinateMetaboliteCHEBI:17549 (ChEBI)
AcetoacetateMetaboliteCHEBI:15344 (ChEBI)
FumarateMetaboliteCHEBI:18012 (ChEBI)
FumarylacetoacetaseProteinP16930 (Uniprot-TrEMBL)
Homogentisate 1,2-dioxygenaseProteinQ93099 (Uniprot-TrEMBL)
HomogentisateMetaboliteCHEBI:16169 (ChEBI)
PorphobilinogenMetaboliteCHEBI:8335 (ChEBI)
SuccinylacetoacetateMetaboliteCHEBI:87999 (ChEBI)
SuccinylacetoneMetaboliteCHEBI:87897 (ChEBI)
Tyrosine aminotransferaseProteinP17735 (Uniprot-TrEMBL)
TyrosineMetaboliteCHEBI:15277 (ChEBI)
[CO2]MetaboliteCHEBI:16526 (ChEBI)
nitisoneMetaboliteCHEBI:50378 (ChEBI) AKA NTBC
p-HydroxyphenyllactateMetaboliteCHEBI:36659 (ChEBI)

Annotated Interactions

No annotated interactions

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