{"orpha":2118,"name":"Hawkinsinuria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["4-HPPD deficiency","4-alpha-hydroxyphenylpyruvate hydroxylase deficiency","4-hydroxyphenylpyruvic acid dioxygenase deficiency"],"definition":"A rare inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2118/","orphanet_url":"https://www.orpha.net/en/disease/detail/2118","names":{"fr":{"name":"Hawkinsinurie","synonyms":["Déficit en 4-HPPD","Déficit en 4-alpha-hydroxyphénylpyruvate hydroxylase","Déficit en 4-hydroxyphénylpyruvate dioxygénase"],"definition":"Trouble rare du métabolisme de la tyrosine caractérisé par un retard de croissance staturo-pondérale, une acidose métabolique persistante, des cheveux fins et épars, ainsi que par l'excrétion urinaire des métabolites d'un acide aminé cyclique inhabituel, appelé hawkinsine ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acide acétique)."},"de":{"name":"Hawkinsinurie","synonyms":["4-HPPD-Mangel","4-alpha-Hydroxyphenylpyruvat- Hydroxylase-Mangel","4-alpha-Hydroxyphenylpyruvat-Dioxygenase-Mangel"],"definition":"Ein seltener angeborener Fehler des Tyrosinstoffwechsels, der durch Gedeihstörung, anhaltende metabolische Azidose, feines und spärliches Haar und die Ausscheidung des ungewöhnlichen zyklischen Aminosäuremetaboliten Hawkinsin (2-l-Cystein-S-yl, 4-Dihydroxycyclohex-5-en-1-yl)essigsäure) im Urin gekennzeichnet ist."},"es":{"name":"Hawkinsinuria","synonyms":["Deficiencia de 4-alfa-hidroxifenilpiruvato hidroxilasa"],"definition":"Es un error congénito del metabolismo de la tirosina poco frecuente caracterizado por fallo de medro, acidosis metabólica persistente, cabello fino y escaso y excreción del inusual metabolito de un aminoácido cíclico, hawkinsina (ácido 2-L-cisteína-S-il-1-4-dihidroxiciclohex-5-en-1-il-acético), en la orina."},"it":{"name":"Hawkinsinuria","synonyms":["Deficit di 4-alfa-idrossifenilpiruvato idrossilasi"]},"nl":{"name":"Hawkinsinurie","synonyms":["4-HPPD-deficiëntie","Deficiëntie van 4-alfa-hydroxyfenylpyruvaat-hydroxylase","Deficiëntie van 4-hydroxyfenylpyrodruivenzuur-dioxygenase"],"definition":"Een zeldzaam aangeboren defect van metabolisme van tyrosine, gekenmerkt door niet-gedijen, persisterende metabole acidose, fijn en schaars haar, en excretie van het ongewone metaboliet van cyclische aminozuren, hawkinsin ((2-l-cysteïne-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetaat), in urine."},"pt":{"name":"Hawkinsinúria","synonyms":["Deficiência de 4-alfa-hidroxifenilpiruvato hidroxilase"],"definition":"Erro inato do metabolismo da tirosina raro, caracterizado por atraso estaturoponderal, acidose metabólica persistente, pêlos finos e ralos e excreção de um metabolito invulgar dos aminoácidos cíclicos, hawkinsina (ácido (2-l-cisteína-S-il, 4-di-hidroxiciclohex-5-en-1-il)acético), na urina."},"pl":{"name":"Hawkinsinuria","synonyms":["Niedobór 4-HPPD","Niedobór dioksygenazy kwasu 4-hydroksyfenylpirogronowego","Niedobór hydroksylazy 4-alfa- hydroksyfenylpirogronianowej"],"definition":"Rzadka wrodzona wada metabolizmu tyrozyny charakteryzująca się brakiem prawidłowego rozwoju, uporczywą kwasicą metaboliczną, cienkimi i rzadkimi włosami oraz wydalaniem niezwykłego metabolitu cyklicznego aminokwasu, hawkinsyny (kwas 2-l-cysteino-S-yl, 4-dihydroksycykloheks-5-en-1-ylo-octowy) w moczu."},"cs":{"name":"Hawkinsinurie","synonyms":["Deficit 4-HPPD","Deficit 4-alfa-hydroxyfenylpyruvát hydroxylázy"]},"uk":{"name":"Хокінсінурія","synonyms":["Дефіцит 4-альфа-гідроксифенілпіруват гідроксилази","Дефіцит 4-HPPD","Дефіцит 4-гідроксифенілпіровиноградної кислоти диоксигенази"],"definition":"A rare inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine."},"zh":{"name":"Hawkinsinuria症","synonyms":["4-α-羟基苯丙酮酸羟化酶缺乏症"]},"tr":{"name":"Hawkinsinüri","synonyms":["4-HPPD eksikliği","4-hidroksifenilpirüvik asit dioksijenaz eksikliği","4-alfa-hidroksifenilpiruvat hidroksilaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"140350","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":"786595759"},{"source":"MONDO","code":"0007700","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535845","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931042","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5668","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]}],"children":[],"genes":[{"symbol":"HPD","name":"4-hydroxyphenylpyruvate dioxygenase","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"11073718[PMID]_17560158[PMID]","hgnc":"5147","ensembl":"ENSG00000158104","omim":"609695","loci":["12q24.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"11073718[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003161","label":"4-Hydroxyphenylpyruvic aciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003607","label":"4-hydroxyphenylacetic aciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010917","label":"Abnormality of tyrosine metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null}]}}