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Fruktosintolerans
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Anmärkning: | 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.
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Annotation: | an inborn error of fructose metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
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historyNote*: | 91(75)(64-66); was see under FRUCTOSE METABOLISM, INBORN ERRORS 1989-90; was see under CARBOHYDRATE METABOLISM, INBORN ERRORS 1964-88 (Prov 1964-66)
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onlineNote*: | use CARBOHYDRATE METABOLISM, INBORN ERRORS to search FRUCTOSE INTOLERANCE 1966-74 (as Prov 1966)
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publicMeSHNote*: | 91; was see under FRUCTOSE METABOLISM, INBORN ERRORS 1989-90; was see under CARBOHYDRATE METABOLISM, INBORN ERRORS 1967-88
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activeMeSHYear*: | 2007X |
dateCreated*: | 1999-01-01X |
dateEstablished*: | 1991-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | NLMX |
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Termer och motsvarande begrepp: | Fruktoosi-intoleranssi (fi) XFruktoosinsietokyvyttömyys (fi, ersatt) Fructose Intolerance (en) Intolerantia fructosi (la-FI, ersatt) |
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