{"orpha":31825,"name":"Methanol poisoning","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-31825/","orphanet_url":"https://www.orpha.net/en/disease/detail/31825","names":{"fr":{"name":"Intoxication par le méthanol","definition":"Une intoxication rare responsable de l'apparition d'une acidose métabolique avec élévation du trou anionique, due à l'acide formique produit par l'alcool déshydrogénase (ADH, toxique pour le système nerveux central). Elle se caractérise par des vertiges, des nausées, des vomissements, une confusion, une acidose métabolique, des troubles visuels (pouvant conduire à une cécité en l'absence de traitement), un coma et est fatale (par détresse respiratoire)."},"de":{"name":"Methanol-Vergiftung","definition":"Eine Vergiftung mit Methanol kommt selten vor, ist aber potentiell lebensbedrohlich. Sie führt zu metabolischer Azidose mit vermehrtem Anionendefizit, da durch die Alkoholdehydrogenase (ADH) das Methanol zu Ameisensäure verstoffwechselt wird. Die toxische Einwirkung der Ameisensäure auf die Netzhaut und den Sehnerv verursacht Sehstörungen oder dauernde Erblindung. Weitere Symptome umfassen Benommenheit, Übelkeit, Erbrechen, Verwirrtheit, metabolische Azidose, Koma und Tod (durch respiratorisches Versagen)."},"es":{"name":"Intoxicación por metanol","definition":"Es un caso poco frecuente de intoxicación que resulta en acidosis metabólica con un incremento de la brecha aniónica debido a la producción de ácido fórmico (tóxico para el sistema nervioso central) mediada por la alcohol deshidrogenasa (ADH). Está caracterizada por mareos, nauseas, vómitos, confusión, acidosis metabólica, perturbaciones visuales (que si no se tratan pueden conducir a ceguera), coma y fallecimiento (debido a insuficiencia respiratoria)."},"it":{"name":"Intossicazione da metanolo","definition":"L'intossicazione da metanolo è un avvelenamento raro, che causa acidosi metabolica con aumento del gap anionico, da produzione di acido formico mediata dall'alcol-deidrogenasi (ADH) (che è tossica per il sistema nervoso centrale). I sintomi clinici comprendono la vertigine, la nausea, il vomito, lo stato confusionale, l'acidosi metabolica, i disturbi della vista (che, in assenza di trattamento, possono causare cecità), il coma e la morte (da insufficienza respiratoria)."},"nl":{"name":"Methanolvergiftiging","definition":"Methanolvergiftiging is een zeldzame vergiftiging die leidt tot metabole acidose met verhoogde anion gap als gevolg van de productie van methaanzuur (mierenzuur) (dat giftig is voor het centrale zenuwstelsel) door alcoholdehydrogenase (ADH), en wordt gekarakteriseerd door duizeligheid, misselijkheid, braken, verwarring, metabole acidose, visuele stoornissen (die zonder behandeling kunnen leiden tot blindheid), coma, en overlijden (vanwege respiratoir falen)."},"pt":{"name":"Intoxicação por metanol"},"pl":{"name":"Zatrucie metanolem"},"cs":{"name":"Otrava metanolem"},"uk":{"name":"Отруєння метанолом","definition":"Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure)."},"zh":{"name":"甲醇中毒"},"tr":{"name":"Metanol zehirlenmesi"}},"xrefs":[{"source":"ICD-10","code":"T51.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"NE61","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1265544191"},{"source":"MONDO","code":"0017860","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0392621","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":"20139536[PMID]_29171574[PMID]_26806851[PMID]","terms":[{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031982","label":"Abnormal putamen morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030955","label":"Alcoholism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000622","label":"Blurred vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002453","label":"Abnormal globus pallidus morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000587","label":"Abnormal optic nerve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012128","label":"Basal ganglia necrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007146","label":"Bilateral basal ganglia lesions","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002339","label":"Abnormal caudate nucleus morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031422","label":"Abnormal morphology of the cerebellar cortex","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001342","label":"Cerebral hemorrhage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005291","label":"Inflammatory arteriopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004754","label":"Permanent atrial fibrillation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Very rare (<4-1%)","criteria":null}]}}