{"orpha":45,"name":"Adenosine monophosphate deaminase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AMP deaminase deficiency","Myoadenylate deaminase deficiency"],"definition":"A rare metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of adenosine monophosphate (AMP) deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-45/","orphanet_url":"https://www.orpha.net/en/disease/detail/45","names":{"fr":{"name":"Déficit en adénosine monophosphate désaminase","synonyms":["Déficit en AMP désaminase","Déficit en myoadénylate désaminase"],"definition":"Le déficit en adénosine monophosphate (AMP) désaminase est une maladie métabolique pour laquelle deux formes ont été décrites. Une activité déficitaire de l'isoforme érythrocytaire de l'AMP désaminase a été décrite chez des sujets ayant des taux plasmatiques peu élevés d'acide urique sans que cela n'ait de signification sur le plan clinique. En revanche, le déficit en myoadénylate désaminase est une affection héréditaire du métabolisme énergétique du muscle, caractérisée par une activité déficitaire de l'AMP désaminase dans les muscles squelettiques. Dans les formes symptomatiques, ce déficit se manifeste par des douleurs musculaires provoquées par l'effort, des crampes, et/ou l'apparition précoce d'une fatigue."},"de":{"name":"Adenosinmonophosphat-Desaminase-Mangel","definition":"Der Adenosinmonophosphat (AMP)-Desaminase-Mangel ist eine Stoffwechselkrankheit, für die zwei Formen beschrieben wurden. Ein Mangel der Erythrozyten-Isoform der AMP-Desaminase wurde bei Menschen mit niedrigem Plasmaspiegel der Harnsäure beschrieben. Dieser Enzymmangel hat klinisch keine Bedeutung. Der Mangel der Myoadenylat-Desaminase ist eine erbliche Erkrankung des Energiestoffwechsels des Muskels mit fehlender AMP-Desaminase-Aktivität im Skelettmuskel. Merkmale sind Muskelschmerzen oder -krämpfe nach Belastung und/oder schnelle Ermüdung."},"es":{"name":"Deficiencia de adenosina monofosfato deaminasa","definition":"Es un trastorno metabólico poco frecuente para el que se han descrito dos formas. La falta de actividad de la isoforma eritrocitaria de la adenosina monofosfato desaminasa (AMP) ha sido descrita en individuos con bajos niveles de ácido úrico en plasma sin relevancia clínica obvia y no se describirá más a fondo. La deficiencia de mioadenilato desaminasa es un trastorno hereditario del metabolismo energético muscular por falta de actividad de la AMP desaminasa en el músculo esquelético. Se caracteriza por dolor muscular, calambres y/o cansancio temprano desencadenados por el ejercicio."},"it":{"name":"Deficit di adenosina monofosfato deaminasi"},"nl":{"name":"Adenosinemonofosfaatdeaminasedeficiëntie","synonyms":["AMP-deaminasedeficiëntie","Myodenylaatdeaminasedeficiëntie"],"definition":"Een zeldzame stofwisselingsstoornis waarvan twee vormen werden beschreven. Gebrek aan activiteit van de isovorm van adenosinemonofosaat (AMP)-deaminase in erytrocyten werd beschreven bij gevallen met lage gehaltes van urinezuur in plasma zonder duidelijke klinische relevantie, en zullen niet verder besproken worden. Deficiëntie van myoadenylaat-deaminase is een erfelijke aandoening van het energiemetabolisme in spieren met een gebrek aan activiteit van AMP-deaminase in skeletspieren. Het wordt gekarakteriseerd door inspanningsgeïnduceerde spierpijn, krampen en/of snelle vermoeidheid."},"pt":{"name":"Deficiência de adenosina monofosfato desaminase","definition":"Doença metabólica rara para a qual foram descritas duas formas. A falta de atividade da isoforma eritrocitária da adenosina monofosfato (AMP) desaminase foi descrita em indivíduos com baixos níveis de ácido úrico plasmático, sem relevância clínica evidente, e não será descrita em detalhe. A deficiência de mioadenilato deaminase é uma doença hereditária do metabolismo energético muscular, caracterizada pela ausência de atividade da AMP deaminase no músculo esquelético. Caracteriza-se por dor muscular induzida pelo exercício, cãibras e/ou fadiga precoce."},"pl":{"name":"Niedobór deaminazy monofosforanu adenozyny","synonyms":["Niedobór deaminazy AMP deaminase","Niedobór mięśniowej deaminazy monofosforanu adenozyny"],"definition":"Rzadkie zaburzenie metaboliczne, które występuje w dwóch postaciach. Brak aktywności izoformy deaminazy monofosforanu adenozyny (AMP) w erytrocytach opisano u pacjentów z niskim stężeniem kwasu moczowego w osoczu, bez oczywistego znaczenia klinicznego, dlatego nie będzie on dalej opisywany. Niedobór deaminazy mioadenylanowej jest dziedzicznym zaburzeniem metabolizmu energetycznego mięśni, związanym z brakiem aktywności deaminazy AMP w mięśniach szkieletowych. Charakteryzuje się bólami / skurczami mięśni oraz wczesnym zmęczeniem wywołanym wysiłkiem fizycznym."},"cs":{"name":"Deficit adenosin monofosfát deaminázy","synonyms":["Deficit AMP deaminázy","Deficit myoadenylát deaminázy"]},"uk":{"name":"Дефіцит аденозинмонофосфатдезамінази","synonyms":["Дефіцит АМФ-дезамінази","Дефіцит міоаденілатдезамінази"],"definition":"A rare metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of adenosine monophosphate (AMP) deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue."},"zh":{"name":"腺苷一磷酸脱氨酶缺乏症","synonyms":["肌腺苷酸脱氨酶缺乏症"]},"tr":{"name":"Adenozin monofosfat deaminaz eksikliği","synonyms":["AMP deaminaz eksikliği","Miyoadenilat deaminaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"612874","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"615511","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E79.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C55.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"550341491"},{"source":"MONDO","code":"13028","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538234","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931781","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"547","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79191,"name":"Disorder of purine metabolism","classifications":[150,156]},{"orpha":206966,"name":"Mitochondrial myopathy","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"AMPD1","name":"adenosine monophosphate deaminase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"468","ensembl":"ENSG00000116748","omim":"102770","loci":["1p13.2"]},{"symbol":"AMPD3","name":"adenosine monophosphate deaminase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8004104[PMID]_11139257[PMID]","hgnc":"470","ensembl":"ENSG00000133805","omim":"102772","loci":["11p15.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-08-23","source":"7440723[PMID]_6122873[PMID]_6707201[PMID]_8486786[PMID]","terms":[{"hpo":"HP:0009020","label":"Exercise-induced muscle fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003738","label":"Exercise-induced myalgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003690","label":"Limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008331","label":"Elevated creatine kinase after exercise","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Excluded (0%)","criteria":null}]}}