Label Type Identifier Comment Ensembl NCBI gene HGNC UniProt Wikidata ChEBI InChI Cinnamic acid Metabolite chebi:27386 "" wikidata:Q57826855 chebi:27386;chebi:27386 inchikey:WBYWAXJHAXSJNI-UHFFFAOYSA-N quinol acetate Metabolite chebi:31128 "This compound is annotated with an example for quinol acetate (4-hydroxyphenyl acetate)." wikidata:Q27114157 chebi:31128;chebi:31128 inchikey:HBMCQTHGYMTCOF-UHFFFAOYSA-N BH4 Metabolite chebi:59560 "AKA tetrahydrobiopterin" wikidata:Q419808 chebi:59560;chebi:59560 inchikey:FNKQXYHWGSIFBK-RPDRRWSUSA-N Thiols Metabolite chebi:29256 "" wikidata:Q220410 chebi:29256;chebi:29256 Phenylalanine Metabolite chebi:17295 "AKA L-phenylalanine" wikidata:Q170545 chebi:17295;chebi:17295 inchikey:COLNVLDHVKWLRT-QMMMGPOBSA-N Ammonia Metabolite chebi:16134 "" wikidata:Q4087 chebi:16134;chebi:16134 inchikey:RUVUHIUYGJBLGI-AXAJWWPKSA-N;inchikey:QGZKDVFQNNGYKY-UHFFFAOYSA-N Hawkinsin Metabolite pubchem.compound:173909 "aka 2-cystenyl-1,4-dihydroxycyclohexenylacetate" wikidata:Q5685191 chebi:149584;chebi:149584 inchikey:SPXVLTDISXZSFM-UHFFFAOYSA-N Homogentisate Metabolite chebi:16169 "" wikidata:Q27098415 chebi:16169;chebi:16169 inchikey:IGMNYECMUMZDDF-UHFFFAOYSA-M [CO2] Metabolite chebi:16526 "" wikidata:Q1997 chebi:16526;chebi:16526 inchikey:CURLTUGMZLYLDI-UHFFFAOYSA-N Succinylacetone Metabolite chebi:87897 "" wikidata:Q25324500 chebi:87897;chebi:87897 inchikey:WYEPBHZLDUPIOD-UHFFFAOYSA-N Maleylacetoacetate Metabolite chebi:17105 "AKA 4-Maleylacetoacetate" wikidata:Q28487658 chebi:17105;chebi:17105 inchikey:GACSIVHAIFQKTC-UPHRSURJSA-L Fumarate Metabolite chebi:29806 "" wikidata:Q28529698 chebi:29806;chebi:29806 inchikey:VZCYOOQTPOCHFL-OWOJBTEDSA-L Acetoacetate Metabolite chebi:13705 "" wikidata:Q21559339 chebi:13705;chebi:13705 inchikey:WDJHALXBUFZDSR-UHFFFAOYSA-M 4-OH-phenylpyruvate Metabolite chebi:36242 "aka 4-Hydroxyphenylpyruvate" wikidata:Q27104348 chebi:36242;chebi:36242 inchikey:KKADPXVIOXHVKN-UHFFFAOYSA-M L-tyrosine Metabolite chebi:58315 "" wikidata:Q106345477 chebi:58315;chebi:58315 inchikey:OUYCCCASQSFEME-QMMMGPOBSA-N NTBC Metabolite chebi:50378 "AKA nitisone" wikidata:Q3877355 chebi:50378;chebi:50378 inchikey:OUBCNLGXQFSTLU-UHFFFAOYSA-N 4-OH-phenylacetate Metabolite chebi:18101 "AKA 4-Hydroxyphenylacetate" wikidata:Q4637160 chebi:18101;chebi:18101 inchikey:XQXPVVBIMDBYFF-UHFFFAOYSA-N Succinylacetoacetate Metabolite chebi:87999 "" wikidata:Q20859149 chebi:87999;chebi:87999 inchikey:OMFWHSRZHVVVAL-UHFFFAOYSA-N fumarylacetoacetate Metabolite hmdb:HMDB0062563 "AKA 4-fumarylacetoacetate" inchikey:GACSIVHAIFQKTC-UHFFFAOYSA-N Porphobilinogen Metabolite chebi:17381 "" wikidata:Q421178 chebi:17381;chebi:17381 inchikey:QSHWIQZFGQKFMA-UHFFFAOYSA-N 4-OH-phenyllactate Metabolite chebi:36659 "aka p-Hydroxyphenyllactate " wikidata:Q27104379 chebi:36659;chebi:36659 inchikey:JVGVDSSUAVXRDY-UHFFFAOYSA-M 5-Aminolevulinate Metabolite chebi:17549 "" wikidata:Q238474 chebi:17549;chebi:17549 inchikey:ZGXJTSGNIOSYLO-UHFFFAOYSA-N Coumaric acid Metabolite chebi:36090 "" wikidata:Q27104329 chebi:36090;chebi:36090 inchikey:NGSWKAQJJWESNS-UHFFFAOYSA-N BH2 Metabolite chebi:15642 "AKA dihydrobiopterin" wikidata:Q74417390 chebi:15642;chebi:15642 inchikey:KJKIEFUPAPPGBC-XXKOCQOQSA-N 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"