Adult-onset type II citrullinemia (CTLN2)
GPTKB entity
Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:urea_cycle_disorder
genetic disorder |
| gptkbp:alsoKnownAs |
gptkb:CTLN2
Citrin deficiency (adult-onset) |
| gptkbp:causedBy |
mutation in SLC25A13 gene
|
| gptkbp:diagnosedBy |
genetic testing
amino acid analysis |
| https://www.w3.org/2000/01/rdf-schema#label |
Adult-onset type II citrullinemia (CTLN2)
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
603471
|
| gptkbp:onset |
adulthood
|
| gptkbp:prevalence |
higher in East Asian populations
|
| gptkbp:symptom |
gptkb:encephalopathy
behavioral changes confusion seizures hyperammonemia |
| gptkbp:treatment |
dietary management
liver transplantation |
| gptkbp:bfsParent |
gptkb:O43175
gptkb:O60216 gptkb:O14807 gptkb:Q9UBS5 |
| gptkbp:bfsLayer |
7
|