loading...| Preferred Name | Hereditary fructose intolerance | |
| Synonyms |
Hereditary fructosemia Hereditary fructose-1-phosphate aldolase deficiency |
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| Definitions |
Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism (see this term), resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_469 |
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| alternative_term |
Hereditary fructosemia Hereditary fructose-1-phosphate aldolase deficiency |
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| definition |
Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism (see this term), resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=469 |
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| has_age_of_onset |
All ages |
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| has_inheritance |
Autosomal recessive |
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| hasDbXref |
OMIM:229600 ICD-10:E74.1 ICD-11:5C51.50 UMLS:C0016751 MeSH:D005633 MedDRA:10019878 |
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| label |
Hereditary fructose intolerance |
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| notation |
ORPHA:469 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_309001 http://www.orpha.net/ORDO/Orphanet_308463 http://www.orpha.net/ORDO/Orphanet_506210 http://www.orpha.net/ORDO/Orphanet_104003 |
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| prefixIRI |
ORDO:Orphanet_469 |
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| prefLabel |
Hereditary fructose intolerance |
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| present_in |
Germany AND has_birth_prevalence_average_value : 3.8 AND has_birth_prevalence_range : 1-9 / 100 000 United Kingdom AND has_point_prevalence_range : 1-9 / 100 000 China AND has_point_prevalence_average_value : 0.1981 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 0.753 AND has_point_prevalence_range : 1-9 / 1 000 000 Specific population AND has_point_prevalence_average_value : 0.38 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000 Switzerland AND has_point_prevalence_range : 1-9 / 100 000 United Kingdom AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 Poland AND has_birth_prevalence_range : 1-9 / 100 000 Germany AND has_point_prevalence_range : 1-9 / 100 000 Finland AND has_point_prevalence_average_value : 7.5 AND has_point_prevalence_range : 1-9 / 100 000 Switzerland AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 Poland AND has_point_prevalence_average_value : 3.2 AND has_point_prevalence_range : 1-9 / 100 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_309001 http://www.orpha.net/ORDO/Orphanet_308463 http://www.orpha.net/ORDO/Orphanet_506210 http://www.orpha.net/ORDO/Orphanet_104003 |
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| subClassOf |