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Fruktos-1,6-difosfatasbrist
Hierarki: | |
Bredare villkor: | |
Anmärkning: | Hexosediphosphatase/deficiency (1970-1988)X |
Anmärkning: | An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosphatase activity. Gluconeogenesis is impaired, resulting in accumulation of gluconeogenic precursors (e.g., amino acids, lactate, ketones) and manifested as hypoglycemia, ketosis, and lactic acidosis. Episodes in the newborn infant are often lethal. Later episodes are often brought on by fasting and febrile infections. As patients age through early childhood, tolerance to fasting improves and development becomes normal.
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Annotation: | an inborn error of fructose metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; DF: FDP DEFIC
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historyNote*: | 91(89); was see under FRUCTOSE METABOLISM, INBORN ERRORS 1989-90
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publicMeSHNote*: | 91; was see under FRUCTOSE METABOLISM, INBORN ERRORS 1989-90
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activeMeSHYear*: | 2007X |
dateCreated*: | 1988-05-31X |
dateEstablished*: | 1991-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | EJBX |
Typ: | |
Samordna villkor: | |
URI: | |
Termer och motsvarande begrepp: | Fruktoosi 1,6-difosfataasin puutos (fi) XFruktoosi 1,6-difosfataasin puute (fi, ersatt) Fruktoosi 1,6-difosfataasipuute (fi, ersatt) Fruktoosi 1,6-difosfataasipuutos (fi, ersatt) Fructose-1,6-Diphosphatase Deficiency (en) Hexosediphosphatase Deficiency (en, ersatt) Fructosediphosphatase Deficiency (en, ersatt) Fructose-1,6-Bisphosphatase Deficiency (en, ersatt) Fructose-Biphosphatase Deficiency (en, ersatt) Fructose 1,6 Diphosphatase Deficiency (en, ersatt) |
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