fructose intolerance

Preferred Label : fructose intolerance;

Obsolete resource : false;

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 synonym : intolerances, fructose; Fructose Aldolase B Deficiency; Fructose-1,6-Biphosphate Aldolase Deficiency; Aldolase Deficiencies, Fructose-1,6-Biphosphate; Aldolase Deficiency, Fructose-1,6-Biphosphate; Deficiencies, Fructose-1,6-Biphosphate Aldolase; Deficiency, Fructose-1,6-Biphosphate Aldolase; Fructose Intolerances, Hereditary; Hereditary Fructose Intolerances; Fructose-1-Phosphate Aldolase Deficiency; Aldolase Deficiencies, Fructose-1-Phosphate; Hereditary Fructose Intolerance; Fructose Intolerance, Hereditary; Fructose 1,6 Biphosphate Aldolase Deficiency; Aldolase Deficiency, Fructose-1-Phosphate; Deficiencies, Fructose-1-Phosphate Aldolase; Deficiency, Fructose-1-Phosphate Aldolase; Fructose 1 Phosphate Aldolase Deficiency; Fructose-1-Phosphate Aldolase Deficiencies; Fructose-1,6-Biphosphate Aldolase Deficiencies; fructose intolerances; intolerance, fructose; deficiency, aldolase B; ALDOB deficiency; ALDOB deficiencies; deficiencies, ALDOB; deficiency, ALDOB; Fructose-1,6-Bisphosphate aldolase B deficiency; fructose 1,6 bisphosphate aldolase B deficiency; fructosemia; fructosemias; aldolase B deficiency; aldolase B deficiencies; deficiencies, aldolase B;

CISMeF synonym : Intolerance, Hereditary Fructose; Intolerances, Hereditary Fructose;

MeSH annotation : an inborn error of fructose metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES;

Wikipedia link : https://en.wikipedia.org/wiki/Hereditary fructose intolerance;

Details

Origin ID

D005633;

UMLS CUI

C0016751;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Disorders of fructose metabolism [ICD-10 Sub-category]
- Disorders of fructose metabolism [ICD-10 Sub-category (who)]
- Fructosemia [PASCAL descriptor]
- fructose-1,6-bisphosphatase deficiency [DO Concept]
- fructosemia [SNOMED Notion]
Currated CISMeF NLP mapping
- Fructose intolerance [MedDRA Preferred Term]
- Fructose intolerance [PASCAL descriptor]
- Fructose intolerance [HPO term]
- Fructose intolerance hereditary [MedDRA LLT]
- Fructose intolerance, hereditary [OMIM Phenotype]
- Fructose-1,6-bisphosphate aldolase B deficiency (disorder) [SNOMED CT concept]
- Hereditary Fructose Intolerance [NCIt concept]
- Hereditary fructose intolerance [ICD-11 Sub-sub category]
- Hereditary fructose intolerance [ICD-9 code]
- Hereditary fructose intolerance [MedDRA Preferred Term]
- Hereditary fructose intolerance [ORDO Disease]
- fructose intolerance [Disease (Nov.)]
- hereditary fructose intolerance syndrome [DO Concept]
- hereditary fructosuria [SNOMED Notion]
DO Cross reference
- hereditary fructose intolerance syndrome [DO Concept]
HPO term
- Fructose intolerance [HPO term]
Has phenotype(s) (HPO)
- Abnormal liver function tests [HPO term]
Indexing information
- acetolactate decarboxylase [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Congenital intestinal transport defect [ORDO Disease]
- Nephropathy secondary to a storage or other metabolic disease [ORDO Disease]
- Rare metabolic liver disease [ORDO Disease]
ORDO relation(s)
- Hereditary fructose intolerance [ORDO Disease]
Record concept(s)
- fructose intolerance [MeSH concept]
See also
- fructose-bisphosphate aldolase [MeSH Descriptor]
See also (suggested by CISMeF)
- fructose [MeSH Descriptor]
- invert sugar [MeSH Supplementary Concept]
- lactitol [MeSH Supplementary Concept]
- maltitol [MeSH Supplementary Concept]
- sorbitol [MeSH Descriptor]
- sucrose [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fructose intolerance [MedDRA Preferred Term]
- Fructose intolerance [HPO term]
- Fructose intolerance [PASCAL descriptor]
- Fructose intolerance hereditary [MedDRA LLT]
- Fructose intolerance, hereditary [OMIM Phenotype]
- Fructose-1,6-bisphosphate aldolase B deficiency (disorder) [SNOMED CT concept]
- Hereditary Fructose Intolerance [NCIt concept]
- Hereditary fructose intolerance [ICD-9 code]
- Hereditary fructose intolerance [ORDO Disease]
- Hereditary fructose intolerance [MedDRA Preferred Term]
- Hereditary fructose intolerance [ICD-11 Sub-sub category]
- fructose intolerance [Disease (Nov.)]
- fructosemia [SNOMED Notion]
- hereditary fructose intolerance syndrome [DO Concept]
- hereditary fructosuria [SNOMED Notion]

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