Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


Term:hereditary fructose intolerance syndrome
go back to main search page
Accession:DOID:9869 term browser browse the term
Definition:An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 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.
Synonyms:exact_synonym: ALDOB Deficiency;   ALDOB deficiencies;   Aldolase B Deficiencies;   Aldolase B Deficiency;   Fructose 1 Phosphate Aldolase Deficiency;   Fructose 1,6 Biphosphate Aldolase Deficiency;   Fructose 1,6 Bisphosphate Aldolase B Deficiency;   Fructose Aldolase B Deficiency;   Fructose Intolerances;   Fructose-1,6-Biphosphate Aldolase Deficiencies;   Fructose-1-Phosphate Aldolase Deficiencies;   Fructosemia;   Fructosemias;   Hereditary Fructose Intolerance;   fructosaemia;   fructose intolerance;   hereditary fructose intolerances
 primary_id: MESH:D005633
 alt_id: OMIM:229600;   RDO:0003062
 xref: ICD10CM:E74.12;   ICD9CM:271.2;   NCI:C84720
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
hereditary fructose intolerance syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldoa aldolase, fructose-bisphosphate A JBrowse link 1 198,228,387 198,233,988 RGD:13673876
G Aldob aldolase, fructose-bisphosphate B JBrowse link 5 64,805,772 64,818,813 RGD:1599063
G Ano5 anoctamin 5 JBrowse link 1 106,873,580 106,971,769 RGD:8554872
G Khk ketohexokinase JBrowse link 6 26,810,577 26,821,013 RGD:13673910

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    syndrome 5215
      hereditary fructose intolerance syndrome 4
Path 2
Term Annotations click to browse term
  disease 15603
    Developmental Diseases 8772
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7555
        genetic disease 7051
          inherited metabolic disorder 1877
            carbohydrate metabolic disorder 326
              Fructose Metabolism, Inborn Errors 6
                hereditary fructose intolerance syndrome 4
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.