{"orpha":31826,"name":"Ethylene glycol poisoning","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-31826/","orphanet_url":"https://www.orpha.net/en/disease/detail/31826","names":{"fr":{"name":"Intoxication par l'éthylène glycol","definition":"Intoxication rare qui se traduit par une acidose métabolique à trou anionique élevé, due à la production d'acide glycolique, d'acide glyoxylique et d'acide oxalique dans le foie au cours de la métabolisation de l'éthylène glycol par l'alcool déshydrogénase (ADH). Elle se caractérise initialement par une euphorie, des troubles de l'élocution, une encéphalopathie, un coma et des convulsions, puis par des manifestations tardives, telles que tachycardie, arythmies, dépression myocardique, instabilité hémodynamique et, enfin, insuffisance rénale aiguë."},"de":{"name":"Ethylenglykol-Vergiftung","definition":"Eine Vergiftung mit Ethylenglykol kommt selten vor, ist aber potentiell tödlich. Da die Alkoholdehydrogenase (ADH) das Ethylenglykol zu Glykolsäure verstoffwechselt, führt die Vergiftung zu einer metabolischen Azidose mit vermehrtem Anionendefizit. Charakteristische Symptome sind Euphorie, verwaschene Sprache, Enzephalopathie, Koma und Krampfanfälle gefolgt von Spätfolgen wie Tachykardie, Arrythmie, myokardiale Depression, hämodynamische Imbalance und im Endstadium akutes Nierenversagen."},"es":{"name":"Intoxicación por etilenglicol","definition":"Es una intoxicación poco frecuente que resulta en acidosis metabólica con incremento de la brecha aniónica debido a la producción de ácido glicólico, ácido glioxílico y ácido oxálico por la alcohol deshidrogenasa (ADH) en el hígado cuando el etilenglicol es metabolizado. Se caracteriza inicialmente por euforia, problemas de dicción, encefalopatía, coma y convulsiones, seguidas por manifestaciones tardías tales como taquicardia, arritmias, depresión miocárdica, desequilibrios hemodinámicos y, finalmente, fallo renal agudo."},"it":{"name":"Intossicazione da glicole etilenico","definition":"L'intossicazione da glicole etilenico è un avvelenamento raro, che causa acidosi metabolica con aumento del gap anionico, da produzione di acido glicolico, acido gliossilico e acido ossalico, mediata dall'alcol-deidrogenasi (ADH) epatica, durante la metabolizzazione del glicole etilenico. I segni clinici iniziali comprendono l'euforia, la difficoltà nel linguaggio, l'encefalopatia, il coma e le crisi epilettiche, seguiti da segni più tardivi, quali la tachicardia, le aritmie, la depressione miocardica, le alterazioni emodinamiche e, infine, l'insufficienza renale acuta."},"nl":{"name":"Ethyleenglycolvergiftiging","definition":"Ethyleenglycolvergiftiging is een zeldzame vergiftiging die leidt tot metabole acidose met verhoogde anion gap als gevolg van de productie van glycolzuur, glyoxylzuur en oxaalzuur door alcoholdehydrogenase (ADH) in de lever wanneer ethyleenglycol wordt gemetaboliseerd, en wordt initieel gekarakteriseerd door euforie, onduidelijke spraak, encefalopathie, coma en insulten, gevolgd door late manifestaties zoals tachycardie, aritmieën, myocarddepressie, hemodynamische instabiliteit en, tenslotte, acuut nierfalen."},"pt":{"name":"Intoxicação por etilenoglicol"},"pl":{"name":"Zatrucie glikolem etylenowym"},"cs":{"name":"Otrava ethylenglykolem"},"uk":{"name":"Отруєння етиленгліколем","definition":"A rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure."},"zh":{"name":"乙二醇中毒"},"tr":{"name":"Etilen glikol zehirlenmesi"}},"xrefs":[{"source":"ICD-10","code":"T52.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"NE61","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017861","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0413194","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":108999,"name":"Rare disorder due to toxic effects"},"parents":[{"orpha":556508,"name":"Rare disorder due to poisoning","classifications":[204]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"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":"2020-03-02","source":"26566024[PMID]_29899323[PMID]_24215789[PMID]_22085425[PMID]","terms":[{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002329","label":"Drowsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031962","label":"Elevated serum anion gap","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031844","label":"Euphoria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001350","label":"Slurred speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002789","label":"Tachypnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002793","label":"Abnormal pattern of respiration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007695","label":"Abnormal pupillary light reflex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030955","label":"Alcoholism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005110","label":"Atrial fibrillation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004885","label":"Episodic respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005263","label":"Gastritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002153","label":"Hyperkalemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001657","label":"Prolonged QT interval","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100598","label":"Pulmonary edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031273","label":"Shock","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031910","label":"Abnormal cranial nerve physiology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002181","label":"Cerebral edema","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011037","label":"Decreased urine output","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030157","label":"Flank pain","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002045","label":"Hypothermia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000124","label":"Renal tubular dysfunction","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008682","label":"Renal tubular epithelial necrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null}]}}