{"orpha":243343,"name":"Dimethylglycine dehydrogenase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DMG dehydrogenase deficiency","DMGDH deficiency"],"definition":"Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-243343/","orphanet_url":"https://www.orpha.net/en/disease/detail/243343","names":{"fr":{"name":"Déficit en diméthylglycine déshydrogénase","synonyms":["Déficit en DMG déshydrogénase","Déficit en DMGDH"],"definition":"Le déficit en diméthylglycine déshydrogénase est un trouble du métabolisme de la glycine extrêmement rare, autosomique récessif et caractérisé dans le seul cas rapporté jusqu'à présent par une fatigue musculaire et une odeur de poisson."},"de":{"name":"Dimethylglycin-Dehydrogenase-Mangel","definition":"Der Dimethylglycin-Dehydrogenase-Mangel ist eine extrem seltene, autosomal-rezessiv vererbte Störung des Glycin-Stoffwechsels. Der einzige bisher beschriebene Fall ist klinisch gekennzeichnet durch Muskelschwäche und fischähnlichen Geruch."},"es":{"name":"Deficiencia de dimetilglicina deshidrogenasa","synonyms":["Deficiencia de DMG deshidrogenasa"],"definition":"El déficit de dimetilglicina deshidrogenasa es un trastorno autosómico recesivo del metabolismo de la glicina extremadamente poco frecuente que se caracteriza clínicamente en el único caso registrado hasta la fecha por fatiga muscular y olor similar al del pescado."},"it":{"name":"Deficit di dimetilglicina deidrogenasi","synonyms":["Deficit di DMG deidrogenasi","Deficit di DMGDH"],"definition":"Il deficit di dimetilglicina deidrogenasi è un difetto molto raro del metabolismo della glicina, a trasmissione autosomica recessiva, caratterizzato, nell'unico paziente descritto, da astenia muscolare e da odore simile a quello del pesce."},"nl":{"name":"Deficiëntie van dimethylglycinedehydrogenase","synonyms":["DMGDH-deficiëntie","Deficiëntie van DMG-dehydrogenase"],"definition":"Een uiterst zeldzame autosomaal recessieve stoornis van metabolisme van glycine, klinisch gekenmerkt, bij het enige geval dat tot op heden werd gerapporteerd, door spiermoeheid en visachtige lichaamsgeur."},"pt":{"name":"Deficiência de dimetilglicina desidrogenase"},"pl":{"name":"Niedobór dehydrogenazy dimetyloglicyny","synonyms":["Niedobór dehydrogenazy DMG","Niedobór DMGDH"]},"cs":{"name":"Deficit dimethylglycindehydrogenázy","synonyms":["Deficit DMG dehydrogenázy","DMGDC deficit"]},"uk":{"name":"Дефіцит диметилгліциндегідрогенази","synonyms":["Дефіцит DMG дегідрогенази","Дефіцит DMGDH"],"definition":"Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor."},"zh":{"name":"二甲基脱氢酶缺乏症","synonyms":["二甲基脱氢酶缺乏症"],"definition":"二甲基甘氨酸脱氢酶缺乏症是一种极为罕见的常染色体隐性遗传性甘氨酸代谢紊乱，临床表现为肌肉疲劳和鱼腥味体味。"},"tr":{"name":"Dimetilglisin dehidrojenaz eksikliği","synonyms":["DMGDH eksikliği","DMG dehidrojenaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"605850","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.7Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0011610","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565278","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1853892","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79194,"name":"Disorder of serine or glycine metabolism","classifications":[150,156]}],"children":[],"genes":[{"symbol":"DMGDH","name":"dimethylglycine dehydrogenase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11231903[PMID]","hgnc":"24475","ensembl":"ENSG00000132837","omim":"605849","loci":["5q14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"10102904[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10102904[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-03","source":"10102904[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001939","label":"Abnormality of metabolism/homeostasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0410020","label":"Fish odor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003750","label":"Increased muscle fatiguability","frequency":"Very frequent (99-80%)","criteria":null}]}}