Fructose Intolerance

Fruktosintolerans

Svensk definition

En autosomalt recessiv fruktosomsättningsstörning som beror på bristande fruktos-1-fosfataldolas-(EC 2.1.2.13)-verkan, vilken leder till ansamling av fruktos-1-fosfat. Det ackumulerade fruktos-1-fosfatet blockerar glykogenolys och glukoneogenes, vilket orsakar svår hypoglycemi efter intag av fruktos (fruktsocker). Fortsatt tillförsel av fruktsocker hos barn medför slutligen leversvikt och död. Dessa patienter utvecklar en kraftig avsmak för söt mat och undviker ett kroniskt sjukdomsförlopp genom att hålla en fruktos- och sukrosfri diet.

Engelsk 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.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

Fructose Intolerances Intolerance, Fructose Intolerances, Fructose Fructose Aldolase B Deficiency Fructose Intolerance, Hereditary Fructose Intolerances, Hereditary Hereditary Fructose Intolerances ALDOB Deficiency ALDOB Deficiencies Deficiencies, ALDOB Deficiency, ALDOB Fructose-1,6-Bisphosphate Aldolase B Deficiency Fructose 1,6 Bisphosphate Aldolase B Deficiency Fructose-1-Phosphate Aldolase Deficiency Aldolase Deficiencies, Fructose-1-Phosphate 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 Fructosemia Fructosemias Hereditary Fructose Intolerance Aldolase B Deficiency Aldolase B Deficiencies Deficiencies, Aldolase B Deficiency, Aldolase B 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 1,6 Biphosphate Aldolase Deficiency Fructose-1,6-Biphosphate Aldolase Deficiencies