{"orpha":171690,"name":"Metabolic myopathy due to lactate transporter defect","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Erythrocyte lactate transporter defect"],"definition":"Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171690/","orphanet_url":"https://www.orpha.net/en/disease/detail/171690","names":{"fr":{"name":"Myopathie métabolique par défaut de transport du lactate","synonyms":["Anomalie du transporteur de lactate de l'érythrocyte"],"definition":"Myopathie rare d'origine métabolique caractérisée par des crampes et/ou des raideurs musculaires après l'exercice (en particulier pendant l'exposition à la chaleur), une rhabdomyolyse et une myoglobinurie consécutive à l'exercice, et une augmentation du taux de créatine kinase sérique."},"de":{"name":"Myopathie, metabolische, durch Laktat-Transporter-Defekt","synonyms":["Laktat-Transporter-Defekt der Erythrozyten"],"definition":"Die metabolische Myopathie aufgrund eines Laktat-Transporterdefekts ist eine seltene Muskelerkrankung, die durch Muskelkrämpfe und/oder Steifheit nach körperlicher Anstrengung (insbesondere bei Hitzeexposition), anstrengungsinduzierte Rhabdomyolyse und Myoglobinurie sowie einer Erhöhung der Serum-Kreatinkinase gekennzeichnet ist."},"es":{"name":"Miopatía metabólica por defecto del trasportador de lactato","synonyms":["Defecto en el trasportador del lactacto eritrocitario"],"definition":"La miopatía metabólica por defecto del transportador de lactato, es una miopatía metabólica poco frecuente caracterizada por calambres musculares y/o rigidez después del ejercicio (especialmente durante la exposición al calor), rabdomiolisis post-esfuerzo y mioglobinuria, así como elevación de la creatinquinasa sérica."},"it":{"name":"Miopatia metabolica da difetto del trasportatore del lattato","synonyms":["Difetto del trasportatore del lattato negli eritrociti"],"definition":"La miopatia metabolica da difetto del trasportatore del lattato è una miopatia metabolica rara caratterizzata da crampi muscolari e/o rigidità secondari all'esercizio fisico (in particolare da esposizione al caldo), rabdomiolisi e mioglobinuria indotte dall'esercizio fisico e livelli elevati di creatin-chinasi nel siero."},"nl":{"name":"Metabole myopathie door lactaattransporterdefect","synonyms":["Erytrocyt-lactaattransporterdefect"],"definition":"Metabole myopathie door lactaattransporterdefect is en zeldzame metabole myopathie die gekarakteriseerd wordt door spierkrampen en/of -stijfheid na inspanning (vooral tijdens blootstelling aan hitte), rabdomyolyse en myoglobinurie na inspanning, en verhoging van het gehalte creatinekinase in het serum."},"pt":{"name":"Miopatia metabólica por deficiência do transportador de lactato"},"pl":{"name":"Miopatia metaboliczna z powodu defektu transportera kwasu mlekowego","synonyms":["Defekt transportera kwasu mlekowego erytrocytów"],"definition":"*Miopatia metaboliczna z powodu defektu transportera kwasu mlekowego jest rzadką miopatią metaboliczną, która charakteryzuje się skurczami i/lub sztywnością mięśni po wysiłku (szczególnie podczas ekspozycji na wysokie temperatury), powysiłkową rabdomiolizą i mioglobinurią oraz podwyższeniem aktywności kinazy kreatynowej w surowicy."},"cs":{"name":"Metabolická myopatie způsobená poruchou přenašeče laktátu","synonyms":["Porucha přenašeče laktátu v erytrocytu"]},"uk":{"name":"Метаболічна міопатія внаслідок дефекту транспортера лактату","synonyms":["Дефект лактатного транспортера еритроцитів"],"definition":"Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase."},"zh":{"name":"乳酸转运体缺陷所致代谢性肌病","synonyms":["红细胞乳酸转运蛋白缺陷"],"definition":"乳酸转运体缺陷所致代谢性肌病是一种罕见的代谢性肌病，其主要临床表现为运动后肌肉痉挛和（或）僵硬（特别在热暴露期间），运动后横纹肌溶解，肌红蛋白尿和血清肌酸激酶升高。"},"tr":{"name":"Laktat taşıyıcı defektine bağlı metabolik miyopati","synonyms":["Eritrosit laktat taşıyıcı defekti"]}},"xrefs":[{"source":"OMIM","code":"245340","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G72.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009501","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565449","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855577","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98486,"name":"Metabolic myopathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SLC16A1","name":"solute carrier family 16 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10590411[PMID]","hgnc":"10922","ensembl":"ENSG00000155380","omim":"600682","loci":["1p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}