loading...| Preferred Name | hereditary fructose intolerance | |
| Synonyms |
fructose 1 phosphate aldolase deficiency |
|
| Definitions |
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; 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. |
|
| ID |
http://purl.bioontology.org/ontology/CSP/1849-3494 |
|
| altLabel |
fructose 1 phosphate aldolase deficiency |
|
| cui |
C0016751 |
|
| definition |
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; 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. |
|
| DID |
1849-3494 |
|
| Inverse of RB | ||
| Inverse of RO | ||
| notation |
1849-3494 |
|
| prefLabel |
hereditary fructose intolerance |
|
| tui |
T047 |
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| subClassOf |