{"orpha":247525,"name":"Citrullinemia type I","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ASS deficiency","Argininosuccinate synthase deficiency","Argininosuccinate synthetase deficiency","Argininosuccinic acid synthase deficiency","Argininosuccinic acid synthetase deficiency","CTLN1","Citrullinemia type 1","Classic citrullinemia"],"definition":"Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type I).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247525/","orphanet_url":"https://www.orpha.net/en/disease/detail/247525","names":{"fr":{"name":"Citrullinémie type I","synonyms":["CTLN1","Citrullinémie classique","Citrullinémie type 1","Déficit en ASS","Déficit en synthase de l'acide argininosuccinique","Déficit en synthase de l'argininosuccinate","Déficit en synthétase de l'acide argininosuccinique","Déficit en synthétase de l'argininosuccinate"],"definition":"La citrullinémie type I est un trouble rare du cycle de l'urée, autosomique récessif. Dans la forme néonatale (citrullinémie type I néonatal aigu), elle est caractérisée sur le plan biologique par une hyperammoniémie et sur le plan clinique par une léthargie progressive, un refus alimentaire et des vomissements. Dans la forme d'apparition tardive (citrullinémie type 1 de l'adulte), l'hyperammoniémie est variable."},"de":{"name":"Zitrullinämie Typ 1","synonyms":["ASS-Mangel","Argininosuccinat-Synthase-Mangel","CTLN1","Citrullinämie Typ I","Klassische Zitrullinämie"],"definition":"Die Zitrullinämie Typ 1 ist ein seltener, autosomal-rezessiv vererbter Defekt im Harnstoffzyklus und klinisch gekennzeichnet durch Hyperammonämie, progrediente Lethargie, schlechte Nahrungsaufnahme und Erbrechen in der neonatalen Form (akute neonatale Zitrullinämie Typ 1; s. dort) und durch unterschiedlich schwere Hyperammonämie in der später beginnenden Form (adulte Zitrullinämie Typ 1; s. dort)."},"es":{"name":"Citrulinemia tipo I","synonyms":["CTLN1","Citrulinemia clásica","Citrulinemia tipo 1","Deficiencia de ASS","Deficiencia de argininosuccinato sintasa","Deficiencia de argininosuccinato sintetasa","Deficiencia de ácido argininosuccínico sintasa","Deficiencia de ácido argininosuccínico sintetasa"],"definition":"La citrulinemia tipo 1 es un defecto del ciclo de la urea, autosómico recesivo y poco frecuente, que se caracteriza clínicamente por hiperamonemia, letargo progresivo, alimentación deficiente y vómitos en la forma neonatal (citrulinemia neonatal aguda tipo 1, consulte este término) y una hiperamonemia variable en la forma de aparición más tardía (citrulinemia del adulto tipo 1, consulte este término)."},"it":{"name":"Citrullinemia, tipo I","synonyms":["CTLN1","Citrullinemia classica","Citrullinemia, tipo 1","Deficit di ASS","Deficit di acido argininosuccinico sintasi","Deficit di acido argininosuccinico sintetasi","Deficit di argininosuccinato sintasi","Deficit di argininosuccinato sintetasi"],"definition":"La citrullinemia tipo 1 è un difetto raro del ciclo dell'urea, ad eredità autosomica recessiva, caratterizzato da iperammoniemia, letargia progressiva, malnutrizione e vomito nella forma neonatale (citrullinemia tipo 1 forma neonatale acuta; si veda questo termine) e da iperammoniemia variabile nella forma a esordio tardivo (citrullinemia tipo 1 a esordio nella vita adulta; si veda questo termine)."},"nl":{"name":"Citrullinemie type I","synonyms":["ASS-deficiëntie","CTLN1","Citrullinemie type 1","Deficiëntie van argininobarnsteenzuursynthase","Deficiëntie van argininobarnsteenzuursynthetase","Deficiëntie van argininosuccinaatsynthase","Deficiëntie van argininosuccinaatsynthetase","Klassieke citrullinemie"],"definition":"Een zeldzaam autosomaal recessief defect van ureumcyclus, biologisch gekenmerkt door hyperammoniëmie, en klinisch door progressieve lethargie, voedingsproblemen en braken bij de neonatale vorm (acute neonatale citrullinemie type I) en door variabele hyperammoniëmie in de later optredende vorm (citrullinemie type I met aanvang op volwassen leeftijd)."},"pt":{"name":"Citrulinémia, tipo I"},"pl":{"name":"Citrulinemia typu I","synonyms":["Citrulinemia klasyczna","Citrulinemia typu 1","CTLN1","Niedobór ASS","Niedobór syntazy argininobursztynianu","Niedobór syntazy kwasu argininobursztynowego","Niedobór syntetazy argininobursztynianu","Niedobór syntetazy kwasu argininobursztynowego"]},"cs":{"name":"Citrulinémie, typ I","synonyms":["ASS deficit","Deficit argininosukcinátsyntetázy","Deficit syntázy kyseliny argininjantarové","Deficit syntetházy kyseliny argininjantarové","CTLN1","Citrulinémie, typ 1","Klasická citrulinémie"]},"uk":{"name":"Цитрулінемія, тип I","synonyms":["Дефіцит аргініносукцинатсинтази","Дефіцит аргініносукцинатсинтетази","Дефіцит синтази аргінінобурштинової кислоти","Дефіцит синтетази аргінінобурштинової кислоти","Дефіцит АСС","Цитрулінемія типу 1","Класична цитрулінемія","CTLN1"],"definition":"Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type I, see this term)."},"zh":{"name":"瓜氨酸血症I型","synonyms":["精氨酸代琥珀酸合成酶缺乏症"],"definition":"瓜氨酸血症I型是一种罕见的常染色体隐性遗传的尿素循环缺陷，其生物学特征为高氨血症，临床表现包括新生儿型（急性新生儿瓜氨酸血症I型，见该词条）：进行性嗜睡、喂养困难、呕吐；晚发型（成人期发病瓜氨酸血症I型，见该词条）：程度不一的高氨血症。"},"tr":{"name":"Sitrülinemi tip I","synonyms":["CTLN1","ASS eksikliği","Sitrülinemi tip 1","Klasik sitrülinemi","Arjininosükkinat sentaz eksikliği","Arjininosükkinat sentetaz eksikliği","Arjininosüksinik asit sentaz eksikliği","Argininosüksinik asit sentetaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"215700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.A3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1410274578"},{"source":"MONDO","code":"0008988","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4721769","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6114","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10058298","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":187,"name":"Citrullinemia","classifications":[150,156]}],"children":[{"orpha":247546,"name":"Acute neonatal citrullinemia type I","type":"Clinical subtype"},{"orpha":247573,"name":"Late-onset citrullinemia type I","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"ASS1","name":"argininosuccinate synthase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301631[PMID]","hgnc":"758","ensembl":"ENSG00000130707","omim":"603470","loci":["9q34.11"],"via":{"orpha":247546,"name":"Acute neonatal citrullinemia type I"}},{"symbol":"ASS1","name":"argininosuccinate synthase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301631[PMID]","hgnc":"758","ensembl":"ENSG00000130707","omim":"603470","loci":["9q34.11"],"via":{"orpha":247573,"name":"Late-onset citrullinemia type I"}}],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.4,"area":"Europe","status":"Validated","source":"European Medicines Agency 2012[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.28,"area":"Austria","status":"Validated","source":"20938748[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.5,"area":"Korea, Republic of","status":"Validated","source":"15906713[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.84,"area":"Taiwan, Province of China","status":"Validated","source":"20567911[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.13,"area":"United States","status":"Not yet validated","source":"ISBN:79130356[OTHER]_15906712[PMID]_ ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-04","source":"30534838[PMID]_29423830[PMID]_28132756[PMID]_30035404[PMID]_20301631[PMID]","terms":[{"hpo":"HP:0011966","label":"Elevated plasma citrulline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002480","label":"Hepatic encephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006889","label":"Intellectual disability, borderline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001950","label":"Respiratory alkalosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011448","label":"Ankle clonus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007185","label":"Loss of consciousness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000575","label":"Scotoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001350","label":"Slurred speech","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002789","label":"Tachypnea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Very rare (<4-1%)","criteria":null}]}}