{"orpha":284414,"name":"Glycerol kinase deficiency, adult form","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare form of glycerol kinase deficiency (GKD) characterized by pseudohypertriglyceridemia in otherwise healthy adults and diagnosed fortuitously.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-284414/","orphanet_url":"https://www.orpha.net/en/disease/detail/284414","names":{"fr":{"name":"Déficit en glycérol kinase, forme adulte","definition":"Le déficit en glycérol kinase, forme adulte est une forme rare de déficit en glycérol kinase, diagnostiqué de manière fortuite et caractérisé par une pseudo-hypertriglycéridémie chez des adultes autrement sains."},"de":{"name":"Glycerol-Kinase-Mangel, adulter","definition":"Der Adulte Glycerolkinase-Mangel (A-GKD), eine seltenere Form des GKD (s. dort), wird zufällig diagnostiziert und ist gekennzeichnet durch Pseudo-Hypertriglyceridämie von sonst gesunden Erwachsenen."},"es":{"name":"Deficiencia de glicerol quinasa en adultos","definition":"Es una forma poco común de deficiencia de glicerol quinasa (DGK) caracterizada por pseudohipertrigliceridemia en adultos sanos diagnosticada de manera fortuita."},"it":{"name":"Deficit di glicerolo chinasi dell'adulto","definition":"Il deficit di glicerolo chinasi (GKD) dell'adulto è una forma rara di GKD (si veda questo termine) diagnosticata incidentalmente, caratterizzata da pseudoipertrigliceridemia in persone adulte apparentemente in buona salute."},"nl":{"name":"Glycerolkinasedeficiëntie, volwassen vorm","definition":"Een zeldzame vorm van glycerolkinasedeficiëntie (GKD) die gekarakteriseerd wordt door pseudohypertriglyceridemie bij voor het overige gezonde volwassenen en die bij toeval gediagnosticeerd wordt."},"pt":{"name":"Deficiência de glicerol cinase, no adulto"},"pl":{"name":"Niedobór kinazy glicerolu, postać dorosła"},"cs":{"name":"Adultní forma deficitu glycerolkinázy"},"uk":{"name":"Дефіцит гліцеролкінази, доросла форма","definition":"A rare form of glycerol kinase deficiency (GKD) characterized by pseudohypertriglyceridemia in otherwise healthy adults and diagnosed fortuitously."},"zh":{"name":"成人型甘油激酶缺乏症","definition":"成人型甘油激酶缺乏症一种罕见的甘油激酶缺乏症（GKD），其特征是在健康成人中偶然被诊断出假性高甘油三酯血症。"},"tr":{"name":"Gliserol kinaz eksikliği, yetişkin formu"}},"xrefs":[{"source":"OMIM","code":"307030","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C51.1","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0017296","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681013","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":408,"name":"Isolated glycerol kinase deficiency","classifications":[150,156]}],"children":[],"genes":[{"symbol":"GK","name":"glycerol kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8651297[PMID]","hgnc":"4289","ensembl":"ENSG00000198814","omim":"300474","loci":["Xp21.2"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Adult"],"prevalence":[],"phenotypes":null}