{"orpha":408,"name":"Isolated glycerol kinase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hyperglycerolemia"],"definition":"Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-408/","orphanet_url":"https://www.orpha.net/en/disease/detail/408","names":{"fr":{"name":"Déficit isolé en glycérol kinase","synonyms":["Hyperglycérolémie"],"definition":"Le déficit isolé en glycérol kinase est un trouble très rare du métabolisme du glycérol lié à l'X, caractérisé au niveau biochimique par des taux élevés de glycérol plasmatique et urinaire. Au niveau clinique, il se caractérise par des manifestations neurométaboliques variables en fonction de l'âge d'apparition de la maladie, allant de crises métaboliques infantiles mettant en jeu le pronostic vital, à une forme adulte asymptomatique (déficit isolé en glycérol kinase, formes infantile, juvénile et adulte)."},"de":{"name":"Glycerol-Kinase-Mangel, isolierter","synonyms":["Hyperglycerinämie","Hyperglycerolämie"],"definition":"Glycerolkinase-Mangel (GKD) ist eine sehr seltene X-chromosomale Störung des Glyzerol-Stoffwechsels. Biochemisch ist er gekennzeichnet durch erhöhte Glycerol-Plasma- und Urinspiegel. Klinisches Kennzeichen sind unterschiedlich schwere neurometabolische Symptome, die vom Zeitpunkt des Beginns der Symptome abhängen und von lebensbedrohlichen Stoffwechselkrisen im Kindesalter bis zu symptomfreien adulten Formen reichen (infantile GKD, juvenile GKD, adulte GKD; s. diese Termini)."},"es":{"name":"Deficiencia aislada de glicerol quinasa","synonyms":["Hiperglicerolemia"],"definition":"El déficit aislado de glicerol quinasa (GKD) es un trastorno del metabolismo del glicerol muy poco frecuente ligado al X, caracterizado bioquímicamente por niveles de glicerol elevados en plasma y orina, y clínicamente por manifestaciones neurometabólicas variables, dependiendo de la edad de aparición, y que varían desde crisis metabólicas que amenazan la vida en la infancia a formas adultas asintomáticas (GKD infantil, GKD juvenil y GKD del adulto (ver estos términos))."},"it":{"name":"Deficit isolato di glicerolo-chinasi","synonyms":["Iperglicerolemia"],"definition":"Il deficit isolato di glicerolo chinasi (GKD) è un difetto molto raro, legato all'X, del metabolismo del glicerolo, caratterizzato, dal punto di vista biochimico, dall'aumento dei livelli plasmatici e urinari del glicerolo e, dal punto di vista clinico, da segni neurometabolici variabili, che dipendono dall'età di esordio, e variano dalla crisi metabolica infantile potenzialmente letale ad una forma adulta asintomatica (GDK infantile, GDK giovanile e GDK dell'adulto; si vedano questi termini)."},"nl":{"name":"Geïsoleerde glycerolkinasedeficiëntie","synonyms":["Hyperglycerolemie"],"definition":"Geïsoleerde glycerolkinasedeficiëntie (GKD) is een zeer zeldzaam X-gebonden aandoening van het glycerolmetabolisme en wordt biochemisch gekarakteriseerd door verhoogde glycerolspiegels in plasma en urine. Klinisch wordt de aandoening gekenmerkt door variabele neurometabole manifestaties afhankelijk van de leeftijd van aanvang en variërend van een levensbedreigende metabole crisis in de kindertijd tot een asymptomatische volwassen vorm (infantiele vorm van GKD, juveniele vorm van GKD, en volwassen vorm van GKD (zie deze termen))."},"pt":{"name":"Deficiência de glicerol cinase isolada","synonyms":["Hiperglicerolemia"]},"pl":{"name":"Izolowany Niedobór kinazy glicerolowej","synonyms":["Hiperglicerolemia"]},"cs":{"name":"Izolovaný deficit glycerol kinázy","synonyms":["Hyperglycerolemie"]},"uk":{"name":"Ізольований дефіцит гліцеролкінази","synonyms":["Гіпергліцеролемія"],"definition":"Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms))."},"zh":{"name":"孤立型甘油激酶缺乏症","synonyms":["高甘油三酯血症"]},"tr":{"name":"İzole gliserol kinaz eksikliği","synonyms":["Hipergliserolemi"]}},"xrefs":[{"source":"OMIM","code":"307030","qualifier":"E","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":"index","validated":true,"icd11_uri":"542432712"},{"source":"MONDO","code":"0018459","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538138","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0574108","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2807","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":308993,"name":"Glycerol kinase deficiency","classifications":[150,156]}],"children":[{"orpha":284414,"name":"Glycerol kinase deficiency, adult form","type":"Clinical subtype"},{"orpha":284411,"name":"Glycerol kinase deficiency, juvenile form","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":284411,"name":"Glycerol kinase deficiency, juvenile form"}},{"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"],"via":{"orpha":284414,"name":"Glycerol kinase deficiency, adult form"}}],"inheritance":["X-linked recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008182","label":"Adrenocortical hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null}]}}