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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-3494
http://purl.bioontology.org/ontology/CSP/1849-3494
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|---|---|
| Preferred Name | hereditary fructose intolerance |
| 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.
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| Synonyms |
fructose 1 phosphate aldolase deficiency
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. |
|---|---|
| altLabel | fructose 1 phosphate aldolase deficiency
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| prefLabel | hereditary fructose intolerance
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| Inverse of RO | |
| type | |
| tui | T047
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| notation | 1849-3494
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| Semantic type UMLS property | |
| DID | 1849-3494
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| cui | C0016751
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| Inverse of RB | |
| subClassOf |
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