{"orpha":2364,"name":"Glycogen storage disease due to lactate dehydrogenase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["GSD due to lactate dehydrogenase deficiency","Glycogenosis due to lactate dehydrogenase deficiency","LDH deficiency"],"definition":"A rare genetic glycogen storage disease characterized by either lactate dehydrogenase (LDH) M- or H-subunit deficiency. Main features of LDH M-subunit deficiency are exertional fatigue and muscle pain potentially accompanied by myoglobinuria. Some patients may develop pustular psoriasis-like skin lesions. Complications of pregnancy, such as frequent abdominal pains and increased uterine tone with a risk of dystocia have also been described. LDH H-subunit deficiency manifests with low serum LDH activity of unclear clinical relevance.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2364/","orphanet_url":"https://www.orpha.net/en/disease/detail/2364","names":{"fr":{"name":"Glycogénose par déficit en lactate déshydrogénase","synonyms":["Déficit en LDH","GSD par déficit en lactate déshydrogénase"],"definition":"Maladie génétique rare de stockage du glycogène, caractérisée par un déficit en sous-unité M ou H de la lactate déshydrogénase (LDH). Les principales caractéristiques du déficit en sous-unité M de la LDH sont une fatigue à l'effort et des douleurs musculaires potentiellement accompagnées de myoglobinurie. Certains patients peuvent développer des lésions cutanées de type psoriasis pustuleux. Des complications de la grossesse, telles que des douleurs abdominales fréquentes et une augmentation du tonus utérin avec un risque de dystocie, ont également été décrites. Le déficit en sous-unité H de la LDH se manifeste par une faible activité sérique de la LDH, dont la pertinence clinique n'est pas tout à fait élucidée."},"de":{"name":"Glykogen-Speicherkrankheit durch Laktat-Dehydrogenase-Mangel","synonyms":["GSD durch Laktat-Dehydrogenase-Mangel","Glykogenose durch LDH-Mangel","LDH-Mangel"],"definition":"Eine seltene genetisch bedingte Glykogenose, die entweder durch einen Mangel an der M- oder H-Untereinheit der Laktatdehydrogenase (LDH) gekennzeichnet ist. Hauptmerkmale des Mangels der LDH M-Untereinheit sind Müdigkeit bei Anstrengung und Muskelschmerzen, die möglicherweise mit Myoglobinurie einhergehen. Einige Patienten können pustulöse, psoriasis-artige Hautläsionen entwickeln. Auch Schwangerschaftskomplikationen wie häufige Unterleibsschmerzen und ein erhöhter Uterustonus mit dem Risiko einer Dystokie sind beschrieben worden. Der Mangel an der LDH-H-Untereinheit äußert sich in einer niedrigen LDH-Aktivität im Serum, deren klinische Relevanz unklar ist."},"es":{"name":"Enfermedad por almacenamiento de glucógeno por deficiencia de lactato deshidrogenasa","synonyms":["Deficiencia de LDH","GSD por deficiencia de lactato deshidrogenasa","Glucogenosis por deficiencia de lactato deshidrogenasa"],"definition":"Es una enfermedad genética poco frecuente por almacenamiento de glucógeno caracterizada por una deficiencia de la subunidad M o H de la lactato deshidrogenasa (LDH). Las características principales de la deficiencia de la subunidad M de la LDH son la fatiga por esfuerzo y el dolor muscular, potencialmente acompañados de mioglobinuria. Algunos pacientes pueden desarrollar lesiones cutáneas similares a la psoriasis pustulosa. También se ha descrito complicaciones del embarazo, como dolores abdominales frecuentes e incremento del tono uterino basal con riesgo de distocia. La deficiencia de la subunidad H de la LDH se manifiesta con una baja actividad de la LDH en suero de relevancia clínica incierta."},"it":{"name":"Malattia da deposito di glicogeno secondaria al deficit di lattato deidrogenasi","synonyms":["Deficit di LDH","GSD da deficit di lattato deidrogenasi","Glicogenosi da deficit di lattato deidrogenasi"],"definition":"Si tratta di una malattia genetica rara da accumulo di glicogeno, caratterizzata dal deficit della subunità M o H della lattato deidrogenasi (LDH). I principali segni clinici secondari al deficit della subunità M della LDH sono l'affaticamento da sforzo e il dolore muscolare, potenzialmente associati a mioglobinuria. Alcuni pazienti sviluppano lesioni cutanee pustolose simili alla psoriasi. La malattia può associarsi alle complicanze della gravidanza, che comprendono il dolore addominale frequente e l'aumento del tono uterino con rischio di distocia. Il deficit della subunità H della LDH si manifesta con una riduzione dell'attività della LDH nel siero, la cui rilevanza clinica non è nota."},"nl":{"name":"Glycogeenstapelingsziekte door deficiëntie van lactaatdehydrogenase","synonyms":["GSD door deficiëntie van lactaatdehydrogenase","Glycogenose door deficiëntie van lactaatdehydrogenase","LDH-deficiëntie"],"definition":"Een zeldzame genetische glycogeenstapelingsziekte, gekenmerkt door deficiëntie van ofwel M- ofwel H-subeenheid van lactaatdehydrogenase (LDH). De voornaamste kenmerken van deficiëntie van LDH M-subeenheid zijn vermoeidheid en spierpijn bij inspanning, mogelijk vergezeld van myoglobinurie. Sommige patiënten kunnen pustuleuze psoriasis-achtige huidlaesies ontwikkelen. Complicaties van zwangerschap, zoals frequente abdominale pijn en verhoogde tonus van uterus met risico op dystocie (obstructie van bevalling) werden ook reeds beschreven. Deficiëntie van LDH H-subeenheid manifesteert zich met lage LDH-activiteit in serum, waarvan de klinische relevantie onduidelijk is."},"pt":{"name":"Doença de armazenamento de glicogénio por deficiência de lactato desidrogenase","definition":"Doença genética rara de armazenamento do glicogénio caracterizada por deficiência da subunidade M ou H da lactato desidrogenase (LDH). As principais características da deficiência da subunidade LDH M são a fadiga por esforço e a dor muscular potencialmente acompanhada de mioglobinúria. Alguns doentes podem desenvolver lesões cutâneas semelhantes à psoríase pustulosa. Também foram descritas complicações na gravidez, como dores abdominais frequentes e aumento do tónus ​​uterino com risco de distocia. A deficiência da subunidade H de LDH manifesta-se com diminuição da atividade sérica de LDH e a relevância clínica é incerta."},"pl":{"name":"Choroba spichrzania glikogenu z powodu niedoboru dehydrogenazy mleczanowej","synonyms":["Glikogenoza z powodu niedoboru dehydrogenazy mleczanowej","GSD z powodu niedoboru dehydrogenazy mleczanowej","Niedobór LDH"]},"cs":{"name":"Glykogenóza způsobená deficitem laktát dehydrogenázy","synonyms":["Deficit laktát dehydrogenázy","GSD způsobená deficitem laktát dehydrogenázy"]},"uk":{"name":"Хвороба накопичення глікогену, зумовлена дефіцитом лактатдегідрогенази","synonyms":["Глікогеноз внаслідок дефіциту лактатдегідрогенази","GSD внаслідок дефіциту лактатдегідрогенази","Дефіцит LDH"],"definition":"A rare genetic glycogen storage disease characterized by either lactate dehydrogenase (LDH) M- or H-subunit deficiency. Main features of LDH M-subunit deficiency are exertional fatigue and muscle pain potentially accompanied by myoglobinuria. Some patients may develop pustular psoriasis-like skin lesions. Complications of pregnancy, such as frequent abdominal pains and increased uterine tone with a risk of dystocia have also been described. LDH H-subunit deficiency manifests with low serum LDH activity of unclear clinical relevance."},"zh":{"name":"乳酸脱氢酶缺乏所致糖原贮积病","synonyms":["乳酸脱氢酶缺乏所致糖原贮积病"]},"tr":{"name":"Laktat dehidrojenaz eksikliğine bağlı glikojen depo hastalığı","synonyms":["LDH eksikliği","Laktat dehidrojenaz eksikliğine bağlı GSD","Laktat dehidrojenaz eksikliğine bağlı glikojenoz"]}},"xrefs":[{"source":"OMIM","code":"612933","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614128","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C51.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1092207912"},{"source":"MONDO","code":"0016527","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5575057","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3159","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79201,"name":"Glycogen storage disease","classifications":[150,156]}],"children":[{"orpha":284435,"name":"Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency","type":"Clinical subtype"},{"orpha":284426,"name":"Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"LDHA","name":"lactate dehydrogenase A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"6535","ensembl":"ENSG00000134333","omim":"150000","loci":["11p15.1"],"via":{"orpha":284426,"name":"Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency"}},{"symbol":"LDHB","name":"lactate dehydrogenase B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"6541","ensembl":"ENSG00000111716","omim":"150100","loci":["12p12.1"],"via":{"orpha":284435,"name":"Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency"}}],"inheritance":[],"onset":["Childhood"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-01-24","source":"1999544[PMID]_6517049[PMID]_8270259[PMID]_5119336[PMID]","terms":[{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003542","label":"Increased circulating pyruvate concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009020","label":"Exercise-induced muscle fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003552","label":"Muscle stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002913","label":"Myoglobinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000972","label":"Palmoplantar hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003201","label":"Rhabdomyolysis","frequency":"Occasional (29-5%)","criteria":null}]}}