{"orpha":1361,"name":"Carnosinase deficiency","type":"Biological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare inborn error of metabolism characterized by low serum carnosinase activity, persistent carnosinuria, and carnosinemia. The clinical phenotype is highly variable, with some patients remaining asymptomatic, while others have been reported to show severe developmental delay, intellectual disability, hypotonia, seizures, and other neurological signs and symptoms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1361/","orphanet_url":"https://www.orpha.net/en/disease/detail/1361","names":{"fr":{"name":"Déficit en carnosinase","definition":"Erreur innée du métabolisme rare caractérisée par une faible activité de la carnosinase sérique, une carnosinurie persistante et une carnosinémie. Le phénotype clinique est très variable, certains patients restent asymptomatiques, tandis que d'autres présentent un important retard de développement, une déficience intellectuelle, une hypotonie, des convulsions et d'autres signes et symptômes neurologiques."},"de":{"name":"Carnosinase-Mangel","definition":"Eine seltene angeborene Stoffwechselstörung, die durch eine niedrige Serum-Carnosinase-Aktivität, persistierende Carnosinurie und Carnosinämie gekennzeichnet ist. Der klinische Phänotyp ist sehr variabel, wobei einige Patienten asymptomatisch bleiben, während andere schwere Entwicklungsverzögerungen, Intelligenzminderung, Hypotonie, Krampfanfälle und andere neurologische Anzeichen und Symptome aufweisen."},"es":{"name":"Deficiencia de carnosinasa","definition":"Es un error congénito del metabolismo, poco frecuente, caracterizado por una reducción de la actividad de la carnosinasa sérica, carnosinuria persistente y carnosinemia. El fenotipo clínico es altamente variable: algunos pacientes permanecen asintomáticos, mientras que otros manifiestan un grave retraso del desarrollo psicomotor, discapacidad intelectual, hipotonía, crisis epilépticas y otros signos y síntomas neurológicos."},"it":{"name":"Deficit di carnosinasi","synonyms":["Deficit di carnosinasi"],"definition":"Si tratta di un errore congenito raro del metabolismo, caratterizzato da riduzione dell'attività della carnosinasi sierica, con persistente carnosinuria e carnosinemia. Il fenotipo clinico è molto variabile: alcuni pazienti sono asintomatici, mentre altri presentano un grave ritardo dello sviluppo, disabilità intellettiva, ipotonia, crisi epilettiche e altri sintomi neurologici."},"nl":{"name":"Carnosinasedeficiëntie","definition":"Een zeldzaam aangeboren defect van stofwisseling, gekenmerkt door lage activiteit van carnosinase in serum, persisterende carnosinurie, en carnosinemie. Het klinische fenotype is zeer variabel; sommige patiënten blijven asymptomatisch, terwijl anderen ernstige ontwikkelingsachterstand, intellectuele achterstand, hypotonie, insulten, en andere neurologische verschijnselen en symptomen vertonen."},"pt":{"name":"Deficiência de carnosinase","synonyms":["Carnosinemia"],"definition":"Erro inato do metabolismo raro, caracterizado por baixa atividade da carnosinase sérica, carnosinúria persistente e carnosinemia. O fenótipo clínico é altamente variável, com alguns doentes a permanecerem assintomáticos, enquanto outros apresentam um atraso grave no desenvolvimento, perturbação do desenvolvimento intelectual, hipotonia, convulsões e outros sinais e sintomas neurológicos."},"pl":{"name":"Niedobór karnozydazy","synonyms":["Deficyt karnozydazy"]},"cs":{"name":"Karnosinémie","synonyms":["Deficit karnosinázy"]},"uk":{"name":"Дефіцит карнозинази","definition":"A rare inborn error of metabolism characterized by low serum carnosinase activity, persistent carnosinuria, and carnosinemia. The clinical phenotype is highly variable, with some patients remaining asymptomatic, while others have been reported to show severe developmental delay, intellectual disability, hypotonia, seizures, and other neurological signs and symptoms."},"zh":{"name":"肌肽酶缺乏"},"tr":{"name":"Karnosinaz eksikliği"}},"xrefs":[{"source":"OMIM","code":"212200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.F1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"486093841"},{"source":"MONDO","code":"8921","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5700357","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6001","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":447874,"name":"Biological anomaly without phenotypic characterization","classifications":[156]},{"orpha":79187,"name":"Disorder of peptide metabolism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":24.0,"area":"Worldwide","status":"Validated","source":"ISBN:0-7817-3063-5[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Worldwide","status":"Validated","source":"16722645[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003167","label":"Carnosinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null}]}}