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"Hereditary fructose intolerance" information

LiverAtlas Disease IDHuLDi00179
NameHereditary fructose intolerance
Description Xref:
Definition1.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. Xref: MeSH2011_6_17:D005633
2.A genetic disorder characterized by the absence of the enzyme aldolase-B from the liver. This enzyme is essential for the metabolism of fructose. Signs and symptoms from fructose ingestion are evident in infancy and include vomiting, abdominal pain and hypoglycemia. Long term complications include hepatic and renal failure. Xref: UMLS2011AA:C0016751
3.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. Xref: UMLS2011AA:C0016751
SynonymAldolase Deficiencies, Fructose-1,6-BiphosphateEXACT Xref: MeSH2011_6_17:D005633
Aldolase Deficiencies, Fructose-1-PhosphateEXACT Xref: MeSH2011_6_17:D005633
Aldolase Deficiency, Fructose-1,6-BiphosphateEXACT Xref: MeSH2011_6_17:D005633
Aldolase Deficiency, Fructose-1-PhosphateEXACT Xref: MeSH2011_6_17:D005633
Deficiencies, Fructose-1,6-Biphosphate AldolaseEXACT Xref: MeSH2011_6_17:D005633
Deficiencies, Fructose-1-Phosphate AldolaseEXACT Xref: MeSH2011_6_17:D005633
Deficiency, Fructose-1,6-Biphosphate AldolaseEXACT Xref: MeSH2011_6_17:D005633
Deficiency, Fructose-1-Phosphate AldolaseEXACT Xref: MeSH2011_6_17:D005633
FructosaemiaBROAD Xref: SNOMEDCT_2005_07_31:20290005
Fructose 1 Phosphate Aldolase DeficiencyEXACT Xref: MeSH2011_6_17:D005633
Fructose 1,6 Biphosphate Aldolase DeficiencyEXACT Xref: MeSH2011_6_17:D005633
Fructose Aldolase B DeficiencyEXACT Xref: MeSH2011_6_17:D005633
Fructose IntoleranceEXACT Xref: MeSH2011_6_17:D005633
Fructose Intolerance, HereditaryEXACT Xref: MeSH2011_6_17:D005633
Fructose IntolerancesEXACT Xref: MeSH2011_6_17:D005633
Fructose Intolerances, HereditaryEXACT Xref: MeSH2011_6_17:D005633
Fructose-1,6-Biphosphate Aldolase DeficienciesEXACT Xref: MeSH2011_6_17:D005633
Fructose-1,6-Biphosphate Aldolase DeficiencyEXACT Xref: MeSH2011_6_17:D005633
Fructose-1,6-bisphosphate aldolase B deficiencyNARROW Xref: SNOMEDCT_2005_07_31:237962008
Fructose-1-Phosphate Aldolase DeficienciesEXACT Xref: MeSH2011_6_17:D005633
Fructose-1-Phosphate Aldolase DeficiencyEXACT Xref: MeSH2011_6_17:D005633
FructosemiaBROAD Xref: MTHICD9_2006:271.2
Hereditary Fructose IntoleranceEXACT Xref: MeSH2011_6_17:D005633
hereditary fructose intolerance syndromeEXACT Xref: HumanDO2011_6_18:DOID:9869
Hereditary fructose intolerance syndromeEXACT Xref: UMLS2011AA:C0016751
Hereditary Fructose IntolerancesEXACT Xref: MeSH2011_6_17:D005633
Intolerance, FructoseEXACT Xref: MeSH2011_6_17:D005633
Intolerance, Hereditary FructoseEXACT Xref: MeSH2011_6_17:D005633
Intolerances, FructoseEXACT Xref: MeSH2011_6_17:D005633
Intolerances, Hereditary FructoseEXACT Xref: MeSH2011_6_17:D005633
XrefClinical Hepatology,2004.Page 793
HumanDO2011_6_18:DOID:9869
MeSH2011_6_17:D005633
UMLS2011AA:C0016751
Genetics RelationGene/Protein/Pathway
Gene:ALDOB