Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:urea_cycle_disorder
genetic disorder |
| gptkbp:alternativeName |
gptkb:CTLN2
gptkb:adult-onset_citrullinemia |
| gptkbp:diagnosedBy |
genetic testing
amino acid analysis |
| gptkbp:firstDescribed |
1980
|
| https://www.w3.org/2000/01/rdf-schema#label |
citrullinemia type II
|
| gptkbp:ICD-10_code |
E72.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:SLC25A13_gene
|
| gptkbp:OMIM |
603471
|
| gptkbp:onset |
adulthood
|
| gptkbp:prevalence |
more common in East Asian populations
|
| gptkbp:symptom |
confusion
vomiting lethargy neurological symptoms hyperammonemia |
| gptkbp:treatment |
liver transplantation
low-protein diet |
| gptkbp:bfsParent |
gptkb:Citrin
gptkb:SLC25A13 gptkb:citrin gptkb:mitochondrial_aspartate-glutamate_carrier gptkb:solute_carrier_family_25_member_13 |
| gptkbp:bfsLayer |
7
|