{"orpha":3129,"name":"Sarcosinemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Sarcosine dehydrogenase complex deficiency"],"definition":"A rare inborn error of metabolism characterized by increased concentrations of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency. The condition is considered benign and not associated with any specific clinical phenotype. Mode of inheritance is autosomal recessive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3129/","orphanet_url":"https://www.orpha.net/en/disease/detail/3129","names":{"fr":{"name":"Sarcosinémie","synonyms":["Déficit en complexe sarcosine déshydrogénase"],"definition":"Maladie métabolique rare, caractérisée par une teneur élevée en sarcosine dans le plasma et dans l'urine due à un déficit en sarcosine déshydrogénase. Considérée comme bénigne, la maladie n'est associée à aucun phénotype clinique spécifique. Elle est transmise selon le mode autosomique récessif."},"de":{"name":"Sarkosinämie","synonyms":["Sarkosin-Dehydrogenase-Komplex-Mangel"],"definition":"Eine seltene angeborene Stoffwechselstörung, die durch erhöhte Konzentrationen von Sarkosin in Plasma und Urin aufgrund eines Mangels an Sarkosin-Dehydrogenase gekennzeichnet ist. Die Erkrankung gilt als gutartig und ist nicht mit einem spezifischen klinischen Phänotyp verbunden. Der Vererbungsmodus ist autosomal-rezessiv."},"es":{"name":"Sarcosinemia","synonyms":["Deficiencia del complejo sarcosina deshidrogenasa"],"definition":"Es un error congénito del metabolismo poco frecuente caracterizado por un aumento de la concentración de sarcosina en plasma y orina debido a la deficiencia de sarcosina deshidrogenasa. El trastorno se considera benigno y no asocia ningún fenotipo clínico específico. El modo de herencia es autosómico recesivo."},"it":{"name":"Sarcosinemia","synonyms":["Deficit del complesso sarcosina deidrogenasi"],"definition":"Si tratta di un raro errore congenito del metabolismo, caratterizzato da una concentrazione elevata di sarcosina nel plasma e nelle urine, secondaria a un deficit della sarcosina deidrogenasi. La malattia è benigna e non si associa a un fenotipo clinico specifico. La trasmissione è autosomica recessiva."},"nl":{"name":"Sarcosinemie","synonyms":["Sarcosine dehydrogenasecomplexdeficiëntie"],"definition":"Een zeldzaam, aangeboren stofwisselingsdefect, gekarakteriseerd door verhoogde concentraties van sarcosine in plasma en urine als gevolg van deficiëntie van sarcosinedehydrogenase. De wordt als goedaardig beschouwd en is niet geassocieerd met een specifiek klinisch fenotype. Overerving gebeurt autosomaal recessief."},"pt":{"name":"Sarcosinemia","synonyms":["Deficiência do complexo sarcosina desidrogenase"],"definition":"Erro inato raro do metabolismo caracterizado por concentrações elevadas de sarcosina no plasma e na urina devido à deficiência da enzima sarcosina desidrogenase. A condição é considerada benigna e não está associada a nenhum fenótipo clínico específico. O padrão de hereditariedade é autossómico recessivo."},"pl":{"name":"Sarkozynemia","synonyms":["Niedobór kompleksu dehydrogenazy sarkozyny"]},"cs":{"name":"Sarkosinemie","synonyms":["Deficit sarkosindehydrogenázového komplexu"]},"uk":{"name":"Саркозінемія","synonyms":["Дефіцит саркозиндегідрогеназного комплексу"],"definition":"A rare inborn error of metabolism characterized by increased concentrations of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency. The condition is considered benign and not associated with any specific clinical phenotype. Mode of inheritance is autosomal recessive."},"zh":{"name":"肌氨酸血症","synonyms":["肌氨酸脱氢酶复合物缺乏症"]},"tr":{"name":"Sarkozinemi","synonyms":["Sarkozin dehidrojenaz kompleks eksikliği"]}},"xrefs":[{"source":"OMIM","code":"268900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.5","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C50.71","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1901733714"},{"source":"MONDO","code":"0010008","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537236","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268563","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"158","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10059299","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":"SARDH","name":"sarcosine dehydrogenase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22825317[PMID]","hgnc":"10536","ensembl":"ENSG00000123453","omim":"604455","loci":["9q34.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.28,"area":"United States","status":"Validated","source":"6207480[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.3,"area":"Specific population","status":"Validated","source":"ISBN:79092543[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-14","source":"22825317[PMID]_9323574[PMID]_2420598[PMID]_6207480[PMID]_5504071[PMID]_5936868[PMID]","terms":[{"hpo":"HP:0010896","label":"Hypersarcosinemia","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0010897","label":"Hypersarcosinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007875","label":"Congenital blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010522","label":"Dyslexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008610","label":"Infantile sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002371","label":"Loss of speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011727","label":"Peroneal muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002273","label":"Tetraparesis","frequency":"Occasional (29-5%)","criteria":null}]}}