hereditary fructose intolerance
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
inborn error of metabolism |
| gptkbp:affects |
fructose metabolism
|
| gptkbp:causedBy |
mutation in ALDOB gene
|
| gptkbp:complication |
liver failure
kidney damage |
| gptkbp:diagnosedBy |
genetic testing
fructose tolerance test |
| gptkbp:enzymeDeficiency |
gptkb:aldolase_B
|
| gptkbp:firstDescribed |
1956
|
| https://www.w3.org/2000/01/rdf-schema#label |
hereditary fructose intolerance
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
229600
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:hypoglycemia
vomiting abdominal pain jaundice failure to thrive |
| gptkbp:treatment |
avoidance of fructose, sucrose, and sorbitol
|
| gptkbp:bfsParent |
gptkb:Aldolase
|
| gptkbp:bfsLayer |
7
|