Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:nervous_system
liver |
| gptkbp:alsoKnownAs |
gptkb:adult-onset_type_II_citrullinemia
gptkb:citrullinemia_type_II |
| gptkbp:cause |
citrullinemia
|
| gptkbp:diagnosedBy |
genetic testing
amino acid analysis |
| gptkbp:firstDescribed |
1960s
|
| https://www.w3.org/2000/01/rdf-schema#label |
Citrin deficiency
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:SLC25A13_gene
|
| gptkbp:OMIM |
603859
|
| gptkbp:onset |
childhood
adulthood neonatal |
| gptkbp:prevalence |
higher in East Asian populations
|
| gptkbp:relatedTo |
gptkb:urea_cycle_disorder
|
| gptkbp:symptom |
gptkb:hypoglycemia
fatigue jaundice neurological symptoms hyperammonemia growth retardation |
| gptkbp:treatment |
dietary management
liver transplantation |
| gptkbp:bfsParent |
gptkb:O43175
gptkb:O60216 gptkb:O00443 gptkb:O14807 gptkb:Q9BVC4 gptkb:Q9UBS5 |
| gptkbp:bfsLayer |
7
|