Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
metabolic disorder |
| gptkbp:affects |
gptkb:aspartate-glutamate_carrier
|
| gptkbp:alsoKnownAs |
gptkb:citrullinemia_type_II
CTLN2 (adult-onset type II citrullinemia) NICCD (neonatal intrahepatic cholestasis caused by citrin deficiency) |
| gptkbp:associatedWith |
adult-onset citrullinemia type II
neonatal intrahepatic cholestasis |
| gptkbp:causedBy |
mutations in SLC25A13 gene
|
| gptkbp:diagnosedBy |
genetic testing
amino acid analysis |
| https://www.w3.org/2000/01/rdf-schema#label |
citrin deficiency
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
603859
|
| gptkbp:prevalence |
higher in East Asian populations
|
| gptkbp:symptom |
gptkb:hypoglycemia
fatigue jaundice failure to thrive hyperammonemia |
| gptkbp:treatment |
dietary management
avoidance of carbohydrates supplementation with medium-chain triglycerides |
| gptkbp:bfsParent |
gptkb:O95810
|
| gptkbp:bfsLayer |
7
|