neonatal intrahepatic cholestasis caused by citrin deficiency
GPTKB entity
Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
inborn error of metabolism |
| gptkbp:abbreviation |
NICCD
|
| gptkbp:alternativeName |
gptkb:citrin_deficiency
NICCD |
| gptkbp:canProgressTo |
gptkb:adult-onset_type_II_citrullinemia
|
| gptkbp:diagnosedBy |
genetic testing
liver function tests |
| https://www.w3.org/2000/01/rdf-schema#label |
neonatal intrahepatic cholestasis caused by citrin deficiency
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:SLC25A13_gene
|
| gptkbp:OMIM |
603471
|
| gptkbp:onset |
neonatal period
|
| gptkbp:prevalence |
higher in East Asian populations
|
| gptkbp:symptom |
jaundice
failure to thrive hepatomegaly coagulopathy hypoproteinemia |
| gptkbp:treatment |
dietary management
medium-chain triglyceride supplementation |
| gptkbp:bfsParent |
gptkb:Citrin
gptkb:SLC25A13 gptkb:citrin |
| gptkbp:bfsLayer |
7
|