loading...| Preferred Name |
Citrullinemia type II |
| ID |
http://www.orpha.net/ORDO/Orphanet_247585 |
| alternative_term |
CTLN2 Adult-onset citrullinemia type 2 Adult-onset citrullinemia type II Adult-onset citrin deficiency Citrullinemia type 2 |
| definition |
A severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247585 |
| has_age_of_onset |
Adult |
| has_inheritance |
Autosomal recessive |
| hasDbXref |
OMIM:603471 UMLS:C1863844 ICD-10:E72.2 |
| label |
Citrullinemia type II |
| notation |
ORPHA:247585 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_247585 |
| prefLabel |
Citrullinemia type II |
| present_in |
Worldwide AND has_point_prevalence_range : Unknown |
| treeView | |
| subClassOf |