hereditary fructose intolerance syndrome

Summary
Synonym
  • Fructosaemia
  • Fructose-1,6-bisphosphate aldolase B deficiency
  • Fructosemia
Definition
A carbohydrate metabolic disorder characterized by recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal after introduction of fructose or sucrose to the diet that has_material_basis_in homozygous or compound heterozygous mutation in the aldolase B gene (ALDOB) on chromosome 9q31.
Super Class
carbohydrate metabolic disorder
External Links
Disease Ontology
DOID:9869
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
229 ALDOB aldolase, fructose-bisphosphate B
3795 KHK ketohexokinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
230163 Aldob aldolase B, fructose-bisphosphate
Displaying 1 entry
Gene ID Gene Symbol Description Source
43183 Ald1 Aldolase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
321664 aldob aldolase b, fructose-bisphosphate
Displaying 1 entry
Gene ID Gene Symbol Description Source
176788 aldo-1 Fructose-bisphosphate aldolase 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P05062 Fructose-bisphosphate aldolase B
The Human Phenotype Ontology
Displaying entries 1 - 10 of 43 in total
HPO ID HPO Term
HP:0002149 Hyperuricemia
HP:0001510 Growth delay
HP:0100626 Chronic hepatic failure
HP:0001069 Episodic hyperhidrosis
HP:0003270 Abdominal distention
HP:0002018 Nausea
HP:0000518 Cataract
HP:0002918 Hypermagnesemia
HP:0002013 Vomiting
HP:0012545 Reduced circulating aldolase concentration
Displaying 1 entry
Gene ID Gene Symbol Description
229 ALDOB aldolase, fructose-bisphosphate B

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024