adult-onset type II citrullinemia
GPTKB entity
Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
gptkb:urea_cycle_disorder |
| gptkbp:biochemicalFeature |
elevated ammonia
elevated citrulline |
| gptkbp:firstDescribed |
1980
|
| https://www.w3.org/2000/01/rdf-schema#label |
adult-onset type II citrullinemia
|
| gptkbp:ICD-10_code |
E72.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:SLC25A13
|
| gptkbp:OMIM |
603471
|
| gptkbp:onset |
adulthood
|
| gptkbp:prevalence |
more common in East Asian populations
|
| gptkbp:symptom |
gptkb:encephalopathy
confusion seizures hyperammonemia abnormal behavior |
| gptkbp:synonym |
gptkb:citrin_deficiency
gptkb:CTLN2 |
| gptkbp:treatment |
dietary management
liver transplantation |
| gptkbp:bfsParent |
gptkb:Citrin
gptkb:SLC25A13 gptkb:citrin gptkb:O95810 |
| gptkbp:bfsLayer |
7
|