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