This pathway shows the tyrosine degradation pathway as presented in Edition 5, Chapter 21 of the book of Blau (ISBN 9783030677268); Ed.4 Ch.2. Disorders resulting from an enzyme defect are highlighted in pink. Red frames mark diagnostically important metabolites. ac8 PAL enzymes have side activity towards L-Tyr, mostly from fungi and monocotylic plants. cb5 This compound is annotated with an example for quinol acetate (4-hydroxyphenyl acetate). AKA tetrahydrobiopterin AKA L-phenylalanine cb5 cb5 aka 2-cystenyl-1,4-dihydroxycyclohexenylacetate c54 Species: Rhodotorula glutinis 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 db1 db0 HPD gene, without mutation AKA 4-hydroxyphenylpyruvate dioxygenase db0 AKA 4-Maleylacetoacetate AKA Fumarylacetoacetase AKA Homogentisate 1,2-dioxygenase aka 4-Hydroxyphenylpyruvate cb5 AKA nitisone aka Tyrosine aminotransferase AKA 4-Hydroxyphenylacetate AKA 4-fumarylacetoacetate aka p-Hydroxyphenyllactate cb5 AKA dihydrobiopterin PAL enzymes have side activity towards L-Tyr, mostly from fungi and monocotylic plants. Species: Trichosporon cutaneum cb5 Change in reaction mechanism from 4-hydroxyphenylpyruvate froming quinol iso homogentisate. c54 c54 cb5 c54 cb5 db1 cb5 AKA Tyrosine aminotransferase deficiency; TT2 AKA 4-hydroxyphenylpyruvate dioxygenase change of function; HAWK AKA Fumarylacetoacetase deficiency, TT1 aka 4-hydroxyphenylpyruvate dioxygenase deficiency; TT3 AKA Homogentisate 1,2-dioxygenase deficiency AKA MAAI "Reported patients are without symptoms, signs being found with mildly increased SA concentrations at newborn screen- ing for TT1. These patients do not seem to need treatment" f1b tyrosine metabolic pathway PW:0000052 Pathway Ontology 11073718 PubMed Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria Mol Genet Metab . 2000 K Tomoeda H Awata T Matsuura I Matsuda E Ploechl T Milovac A Boneh C R Scott D M Danks F Endo 20677779 PubMed 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 20677779 PubMed 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 20677779 PubMed 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 20677779 PubMed 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 20677779 PubMed 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 20677779 PubMed 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 Brownlee JM Heinz B Bates J Moran GR tyrosinemia type I DOID:0050726 Disease tyrosine degradation pathway PW:0001284 Pathway Ontology 17560158 PubMed Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III. Mol Genet Metab 2007 Item CB Mihalek I Lichtarge O Jalan A Vodopiutz J Muhl A Bodamer OA tyrosinemia type I pathway PW:0001608 Pathway Ontology tyrosinemia type III DOID:0050727 Disease tyrosinemia type II pathway PW:0001609 Pathway Ontology alkaptonuria pathway PW:0002277 Pathway Ontology hawkinsinuria DOID:0111362 Disease hawkinsinuria pathway PW:0002380 Pathway Ontology alkaptonuria DOID:9270 Disease tyrosinemia pathway PW:0001607 Pathway Ontology 31992763 PubMed Exploring the therapeutic potential of modern and ancestral phenylalanine/tyrosine ammonia-lyases as supplementary treatment of hereditary tyrosinemia Sci Rep . 2020 Natalie M Hendrikse Albin Holmberg Larsson Stefan Svensson Gelius Sergei Kuprin Erik Nordling Per-Olof Syrén 27876694 PubMed Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency J Med Genet . 2017 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 9783642403361 ISBN Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases 2014 Blau, Nenad Duran, Marinus Gibson, K. Michael Dionisi-Vici, Carlo tyrosinemia type III pathway PW:0001610 Pathway Ontology tyrosinemia type II DOID:0050725 Disease inherited metabolic disorder DOID:655 Disease