{"orpha":69723,"name":"Tyrosinemia type 3","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency","Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency","Tyrosinemia due to HPD deficiency","Tyrosinemia type III"],"definition":"A rare inborn error of tyrosine metabolism characterized by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-69723/","orphanet_url":"https://www.orpha.net/en/disease/detail/69723","names":{"fr":{"name":"Tyrosinémie type 3","synonyms":["Tyrosinémie par déficit en 4-hydroxyphénylpyruvate dioxygénase","Tyrosinémie par déficit en HPD","Tyrosinémie par déficit en acide 4-hydroxyphénylpyruvique oxydase","Tyrosinémie type III"],"definition":"Erreur innée rare du métabolisme de la tyrosine caractérisée par une hypertyrosinémie légère et une excrétion urinaire élevée de 4-hydroxyphenylpyruvate, de 4-hydroxyphenyllactate et de 4-hydroxyphenylacetate."},"de":{"name":"Tyrosinämie Typ 3","synonyms":["Tyrosininämie Typ III","Tyrosinämie durch 4-Hydroxyphenylpyruvat-Dioxygenase-Mangel"],"definition":"Ein seltener angeborener Fehler des Tyrosinstoffwechsels, der durch eine leichte Hypertyrosinämie und eine erhöhte Ausscheidung von 4-Hydroxyphenylpyruvat, 4-Hydroxyphenyllactat und 4-Hydroxyphenylacetat im Urin gekennzeichnet ist."},"es":{"name":"Tirosinemia tipo 3","synonyms":["Tirosinemia por deficiencia de 4-hidroxifenilpiruvato dioxigenasa","Tirosinemia por deficiencia de HPD","Tirosinemia por deficiencia de la oxidasa del ácido 4-hidroxifenilpiruvico","Tirosinemia tipo III"],"definition":"Es un error congénito del metabolismo de la tirosina poco frecuente caracterizado por hipertirosinemia leve y aumento de la excreción urinaria de 4-hidroxifenil-piruvato, 4-hidroxifenil-lactato y 4-hidroxifenil-acetato."},"it":{"name":"Tirosinemia, tipo 3","synonyms":["Tirosinemia da deficit di 4-idrossifenilpiruvato diossigenasi","Tirosinemia da deficit di HPD","Tirosinemia da deficit di acido 4-idrossifenilpiruvico ossidasi","Tirosinemia, tipo III"]},"nl":{"name":"Tyrosinemie type 3","synonyms":["Tyrosinemie door HPD-deficiëntie","Tyrosinemie door deficiëntie van 4-hydroxyfenylpyrodruivenzuur-oxidase","Tyrosinemie door deficiëntie van 4-hydroxyfenylpyruvaatdioxygenase","Tyrosinemie type III"],"definition":"Een zeldzaam aangeboren defect van metabolisme van tyrosine, gekenmerkt door milde hypertyrosinemie en verhoogde excretie van 4-hydroxyfenylpyruvaat, 4-hydroxyfenyllactaat en 4-hydroxyfenylacetaat in urine."},"pt":{"name":"Tirosinemia tipo III","synonyms":["Deficiência de 4-hidroxifenilpiruvato dioxigenase","Deficiência de ácido 4-hidroxifenilpiruvico oxidase"],"definition":"Erro inato do metabolismo da tirosina raro caracterizado por hipertirosinemia leve e aumento da excreção urinária de 4-hidroxifenilpiruvato, 4-hidroxifenillactato e 4-hidroxifenilacetato."},"pl":{"name":"Tyrozynemia typu 3","synonyms":["Tyrozynemia spowodowana niedoborem dioksygenazy 4-hydroksyfenylopirogronianu","Tyrozynemia spowodowana niedoborem HPD","Tyrozynemia spowodowana niedoborem oksydazy kwasu 4-hydroksyfenylopirogronowego","Tyrozynemia typu III"],"definition":"Tyrozynemia typu 3 to wrodzona wada metabolizmu tyrozyny charakteryzująca się łagodną hipertyrozynemią oraz podwyższonym poziomem 4-hydroksyfenylopirogronianu, 4-hydroksyfenylomleczanu i 4-hydroksyfenylooctanu."},"cs":{"name":"Tyrosinémie, typ 3","synonyms":["Tyrosinémie typu III","Tyrosinémie způsobená deficitem 4-hydroxyfenypyruvátdioxygenázy","Tyrosinémie způsobená deficitem oxidázy kyseliny 4-hydroxyfenylpyrohroznové","Tyrosinémie způsobená deficitem HPD"]},"uk":{"name":"Тирозинемія типу 3","synonyms":["Тирозинемія внаслідок дефіциту 4-гідроксифенілпіруватдіоксигенази","Тирозинемія внаслідок дефіциту оксидази 4-гідроксифенілпіровиноградної кислоти","Тирозинемія внаслідок дефіциту HPD","Тирозинемія III типу"],"definition":"A rare inborn error of tyrosine metabolism characterized by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate."},"zh":{"name":"酪氨酸血症3型","synonyms":["4-羟基苯丙酮酸氧化酶缺乏所致酪氨酸血症"]},"tr":{"name":"Tirozinemi tip 3","synonyms":["Tirozinemi tip III","HPD eksikliğine bağlı tirozinemi","4-hidroksifenilpiruvat dioksijenaz eksikliğine bağlı tirozinemi","4-hidroksifenilpirüvik asit oksidaz eksikliğine bağlı tirozinemi"]}},"xrefs":[{"source":"OMIM","code":"276710","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"745316952"},{"source":"MONDO","code":"0010162","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268623","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10332","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10069461","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":284818,"name":"Disorder of tyrosine metabolism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"HPD","name":"4-hydroxyphenylpyruvate dioxygenase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"10942115[PMID]","hgnc":"5147","ensembl":"ENSG00000158104","omim":"609695","loci":["12q24.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-03-04","source":"41064053[PMID]_37817461[PMID]_35707594[PMID]_32520295[PMID]","terms":[{"hpo":"HP:0003637","label":"Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003231","label":"Hypertyrosinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003161","label":"4-Hydroxyphenylpyruvic aciduria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003607","label":"4-hydroxyphenylacetic aciduria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6001004","label":"Elevated urine hydroxyphenyllactic acid level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007879","label":"Allergic conjunctivitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:6000479","label":"Elevated urine N-acetyltyrosine level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001097","label":"Keratoconjunctivitis sicca","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:6000598","label":"Elevated urinary succinylacetone level","frequency":"Excluded (0%)","criteria":null}]}}