loading...| Preferred Name |
Argininosuccinic aciduria |
| ID |
http://www.orpha.net/ORDO/Orphanet_23 |
| alternative_term |
Argininosuccinic acid lyase deficiency Argininosuccinase deficiency Argininosuccinatelyase deficiency ASA deficiency ASL deficiency |
| definition |
A rare, genetic disorder of urea cycle metabolism typically characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms that manifest with stress- or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities, or chronic liver disease. Patients often manifest liver dysfunction. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=23 |
| has_age_of_onset |
All ages |
| has_inheritance |
Autosomal recessive |
| hasDbXref |
OMIM:207900 ICD-11:5C50.A0 MeSH:D056807 MedDRA:10058299 UMLS:C0268547 ICD-10:E72.2 |
| label |
Argininosuccinic aciduria |
| notation |
ORPHA:23 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_23 |
| prefLabel |
Argininosuccinic aciduria |
| present_in |
Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_birth_prevalence_average_value : 0.69 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.46 AND has_birth_prevalence_range : 1-9 / 1 000 000 Austria AND has_birth_prevalence_average_value : 1.05 AND has_birth_prevalence_range : 1-9 / 100 000 |
| treeView | |
| subClassOf |