loading...| Preferred Name | Fructose Intolerance [Disease/Finding] | |
| Synonyms |
Fructosemia Fructose-1,6-Biphosphate Aldolase Deficiency ALDOB Deficiency Hereditary Fructose Intolerance Fructose Intolerance, Hereditary Fructose Aldolase B Deficiency Fructose Intolerance Fructose-1,6-Bisphosphate Aldolase B Deficiency Fructose-1-Phosphate Aldolase Deficiency Aldolase B Deficiency |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001294 |
|
| altLabel |
Fructosemia Fructose-1,6-Biphosphate Aldolase Deficiency ALDOB Deficiency Hereditary Fructose Intolerance Fructose Intolerance, Hereditary Fructose Aldolase B Deficiency Fructose Intolerance Fructose-1,6-Bisphosphate Aldolase B Deficiency Fructose-1-Phosphate Aldolase Deficiency Aldolase B Deficiency |
|
| cui |
C0016751 |
|
| MESH DEFINITION |
An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) activity, resulting in accumulation of fructose-1-phosphate. The accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose. Prolonged fructose ingestion in infants leads ultimately to hepatic failure and death. Patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet. |
|
| MESH DUI |
D005633 |
|
| MeSH name |
Fructose Intolerance |
|
| MESH UI |
M0008856 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000001294 |
|
| NUI |
N0000001294 |
|
| prefLabel |
Fructose Intolerance [Disease/Finding] |
|
| SNOMED CID |
20052008 |
|
| tui |
T047 |
|
| subClassOf |