Label Type Identifier Comment Ensembl NCBI gene HGNC UniProt Wikidata ChEBI InChI PubChem ChemSpider HMDB KEGG LipidMaps Cinnamic acid Metabolite chebi:27386 "" wikidata:Q57826855 chebi:27386 inchikey:WBYWAXJHAXSJNI-UHFFFAOYSA-N pubchem.compound:8784 kegg.compound:C10438 quinol acetate Metabolite chebi:31128 "This compound is annotated with an example for quinol acetate (4-hydroxyphenyl acetate)." wikidata:Q27114157 chebi:31128 inchikey:HBMCQTHGYMTCOF-UHFFFAOYSA-N pubchem.compound:96009 chemspider:86676 hmdb:HMDB0060390 kegg.compound:C13636 BH4 Metabolite chebi:59560 "AKA tetrahydrobiopterin" wikidata:Q419808 chebi:59560 inchikey:FNKQXYHWGSIFBK-RPDRRWSUSA-N pubchem.compound:44257;pubchem.compound:135398654 chemspider:40270;chemspider:21233996 hmdb:HMDB0000027;hmdb:HMDB0000787 kegg.compound:C00272 Thiols Metabolite chebi:29256 "" wikidata:Q220410 chebi:29256 kegg.compound:C00145 Phenylalanine Metabolite chebi:17295 "AKA L-phenylalanine" wikidata:Q72440822;wikidata:Q170545;wikidata:Q106345467 chebi:58095;chebi:17295 inchikey:COLNVLDHVKWLRT-QMMMGPOBSA-N pubchem.compound:6140;pubchem.compound:6925665 chemspider:5910 hmdb:HMDB0000159 kegg.compound:C00079 Ammonia Metabolite chebi:16134 "" wikidata:Q4087 chebi:16134 inchikey:RUVUHIUYGJBLGI-AXAJWWPKSA-N;inchikey:QGZKDVFQNNGYKY-UHFFFAOYSA-N pubchem.compound:222 chemspider:217 hmdb:HMDB0033934;hmdb:HMDB0000051 kegg.compound:C00014 Hawkinsin Metabolite pubchem.compound:173909 "aka 2-cystenyl-1,4-dihydroxycyclohexenylacetate" wikidata:Q5685191 chebi:149584 inchikey:SPXVLTDISXZSFM-UHFFFAOYSA-N pubchem.compound:173909 chemspider:151775 hmdb:HMDB0002354 Homogentisate Metabolite chebi:16169 "" wikidata:Q27098415 chebi:16169 inchikey:IGMNYECMUMZDDF-UHFFFAOYSA-M pubchem.compound:5460389 chemspider:4573931 kegg.compound:C00544 [CO2] Metabolite chebi:16526 "" wikidata:Q1997 chebi:16526 inchikey:CURLTUGMZLYLDI-UHFFFAOYSA-N pubchem.compound:280 chemspider:274 hmdb:HMDB0001967 kegg.compound:C00011 Succinylacetone Metabolite chebi:87897 "" wikidata:Q25324500 chebi:87897 inchikey:WYEPBHZLDUPIOD-UHFFFAOYSA-N pubchem.compound:5312 chemspider:5121 hmdb:HMDB0000635 Maleylacetoacetate Metabolite chebi:17105 "AKA 4-Maleylacetoacetate" wikidata:Q28487658 chebi:17105 inchikey:GACSIVHAIFQKTC-UPHRSURJSA-L pubchem.compound:5460066 kegg.compound:C01036 Fumarate Metabolite chebi:29806 "" wikidata:Q28529698 chebi:29806 inchikey:VZCYOOQTPOCHFL-OWOJBTEDSA-L pubchem.compound:5460307 chemspider:4573886 kegg.compound:C00122 Acetoacetate Metabolite chebi:13705 "" wikidata:Q21559339 chebi:13705 inchikey:WDJHALXBUFZDSR-UHFFFAOYSA-M pubchem.compound:6971017 chemspider:5341896 hmdb:HMDB0304256 4-OH-phenylpyruvate Metabolite chebi:36242 "aka 4-Hydroxyphenylpyruvate" wikidata:Q27104348 chebi:36242 inchikey:KKADPXVIOXHVKN-UHFFFAOYSA-M pubchem.compound:6971070 chemspider:5341947 kegg.compound:C01179 L-tyrosine Metabolite chebi:58315 "" wikidata:Q188017;wikidata:Q106345477 chebi:58315;chebi:17895 inchikey:OUYCCCASQSFEME-QMMMGPOBSA-N pubchem.compound:6057;pubchem.compound:6942100 chemspider:5833 hmdb:HMDB0000158 kegg.compound:C00082 NTBC Metabolite chebi:50378 "AKA nitisone" wikidata:Q3877355 chebi:50378 inchikey:OUBCNLGXQFSTLU-UHFFFAOYSA-N pubchem.compound:115355 chemspider:103195 hmdb:HMDB0014492 4-OH-phenylacetate Metabolite chebi:18101 "AKA 4-Hydroxyphenylacetate" wikidata:Q4637160 chebi:18101 inchikey:XQXPVVBIMDBYFF-UHFFFAOYSA-N pubchem.compound:127 chemspider:124 hmdb:HMDB0000020 kegg.compound:C00642 Succinylacetoacetate Metabolite chebi:87999 "" wikidata:Q20859149 chebi:87999 inchikey:OMFWHSRZHVVVAL-UHFFFAOYSA-N pubchem.compound:125181 chemspider:111425 hmdb:HMDB0240258 fumarylacetoacetate Metabolite hmdb:HMDB0062563 "AKA 4-fumarylacetoacetate" inchikey:GACSIVHAIFQKTC-UHFFFAOYSA-N pubchem.compound:122 hmdb:HMDB0062563 Porphobilinogen Metabolite chebi:17381 "" wikidata:Q421178 chebi:17381 inchikey:QSHWIQZFGQKFMA-UHFFFAOYSA-N pubchem.compound:1021 chemspider:995 hmdb:HMDB0000245 kegg.compound:C00931 4-OH-phenyllactate Metabolite chebi:36659 "aka p-Hydroxyphenyllactate " wikidata:Q27104379 chebi:36659 inchikey:JVGVDSSUAVXRDY-UHFFFAOYSA-M pubchem.compound:134742521;pubchem.compound:9548580 chemspider:7827504 kegg.compound:C03672 5-Aminolevulinate Metabolite chebi:17549 "" wikidata:Q238474;wikidata:Q106345489 chebi:17549;chebi:356416 inchikey:ZGXJTSGNIOSYLO-UHFFFAOYSA-N pubchem.compound:137 chemspider:134 hmdb:HMDB0001149 kegg.compound:C00430 lipidmaps:LMFA01100055 Coumaric acid Metabolite chebi:36090 "" wikidata:Q27104329 chebi:36090 inchikey:NGSWKAQJJWESNS-UHFFFAOYSA-N pubchem.compound:322 chemspider:316 BH2 Metabolite chebi:15642 "AKA dihydrobiopterin" wikidata:Q74417390 chebi:15642 inchikey:KJKIEFUPAPPGBC-XXKOCQOQSA-N pubchem.compound:135476770 chemspider:30792101 hmdb:HMDB0002281 kegg.compound:C15522 GSTZ1 GeneProduct uniprot:O43708 "" ensembl:ENSG00000100577 ncbigene:2954 hgnc.symbol:GSTZ1 uniprot:O43708;uniprot:A0A0A0MR33;uniprot:A0A0C4DFM0;uniprot:G3V5T0;uniprot:G3V267;uniprot:G3V4T6;uniprot:G3V5G8;uniprot:G3V5U6;uniprot:G3V3B9;uniprot:H0YJN8 PAL Protein eccode:4.3.1.25 "PAL enzymes have side activity towards L-Tyr, mostly from fungi and monocotylic plants." RgPAL Protein uniprot:Q2VMT1 "Species: Rhodotorula glutinis" mutated HPD Protein uniprot:A0A0B4J1R4 "HPD gene, with mutation p.Asn241Ser, leading to a change in function in the protein.
Another mutation found to be linked to hawkinsiburia: A heterozygous missense mutation: Ala to Thr change at codon 33 (A33T) [PMID:11073718]
AKA 4-hydroxyphenylpyruvate dioxygenase" ensembl:ENSG00000158104 ncbigene:3242 hgnc.symbol:HPD uniprot:A0A0B4J1R4;uniprot:P32754 HPD Protein uniprot:P32754 "HPD gene, without mutation
AKA 4-hydroxyphenylpyruvate dioxygenase" ensembl:ENSG00000158104 ncbigene:3242 hgnc.symbol:HPD uniprot:A0A0B4J1R4;uniprot:P32754 FAH Protein uniprot:P16930 "AKA Fumarylacetoacetase" ensembl:ENSG00000103876 ncbigene:2184 hgnc.symbol:FAH uniprot:A0A804HJ13;uniprot:P16930;uniprot:H0YLC7;uniprot:H3BNP8;uniprot:A0A804HJX2;uniprot:B7Z4W2;uniprot:A0A384P5L6 HGD Protein uniprot:Q93099 "AKA Homogentisate 1,2-dioxygenase" ensembl:ENSG00000113924 ncbigene:3081 hgnc.symbol:HGD uniprot:Q93099;uniprot:H7C4R8;uniprot:H7C5G7;uniprot:H7C576;uniprot:C9JTX9 TAT Protein uniprot:P17735 "aka Tyrosine aminotransferase" ensembl:ENSG00000198650 ncbigene:6898 hgnc.symbol:TAT uniprot:P17735;uniprot:A0A140VKB7 TAL Protein eccode:4.3.1.25 "PAL enzymes have side activity towards L-Tyr, mostly from fungi and monocotylic plants." TcTAL Protein uniprot:U5TV35 "Species: Trichosporon cutaneum"