{"orpha":284411,"name":"Glycerol kinase deficiency, juvenile form","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-284411/","orphanet_url":"https://www.orpha.net/en/disease/detail/284411","names":{"fr":{"name":"Déficit en glycérol kinase, forme juvénile","definition":"Le déficit en glycérol kinase, forme juvénile est une forme rare de déficit en glycérol kinase, caractérisé par des manifestations cliniques de type Reye, incluant des épisodes de vomissements, une acidémie et des troubles de la conscience."},"de":{"name":"Glycerol-Kinase-Mangel, juveniler","definition":"Der Juvenile Glycerolkinase-Mangel (J-GKD), eine seltenere Form des GKD (s. dort), ist klinisch gekennzeichnet durch Reye-ähnliche Symptome: Episodisches Erbrechen, Azidämie und Bewusstseinsstörungen."},"es":{"name":"Deficiencia de glicerol quinasa juvenil","definition":"El déficit de glicerol quinasa (GKD) juvenil es una forma poco común de GKD (ver este término) caracterizada por manifestaciones clínicas Reye-like, que incluyen vómitos, acidemia y trastornos de la conciencia."},"it":{"name":"Deficit giovanile di glicerolo chinasi","definition":"Il deficit giovanile di glicerolo chinasi (GKD) è una forma rara di GKD (si veda questo termine) caratterizzata da segni clinici simil-Reye, che comprendono il vomito episodico, l'acidemia e le turbe della coscienza."},"nl":{"name":"Glycerolkinasedeficiëntie, juveniele vorm","definition":"De juveniele vorm van glycerolkinasedeficiëntie (GKD) is een zeldzame vorm van GKD (zie deze term), gekenmerkt door Reye-achtige klinische manifestaties, waaronder episodisch braken, acidemie en stoornissen van het bewustzijn."},"pt":{"name":"Deficiência de glicerol cinase, forma juvenil"},"pl":{"name":"Niedobór kinazy glicerolu, postać młodzieńcza"},"cs":{"name":"Deficit glycerolkinázy, juvenilní forma"},"uk":{"name":"Дефіцит гліцеролкінази, ювенільна форма","definition":"Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness."},"zh":{"name":"幼年型甘油激酶缺乏症","definition":"青少年型甘油激酶缺乏症（GKD）是一种少见的GKD（见本术语），其特征为瑞氏样临床表现，包括阵发性呕吐、酸血症和意识障碍。"},"tr":{"name":"Gliserol kinaz eksikliği, jüvenil 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":"0017295","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681029","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":["Adolescent","Childhood"],"prevalence":[],"phenotypes":null}