Die Fruktoseintoleranz ist eine autosomal rezessive Erkrankung die durch Mutationen des Gen der Aldolase B hervorgerufen wird. Die Erkrankung ist durch Fructosämie, Hypoglykämie und rezidivierenden Allgemeinsymptomen, wie Erbrechen gekennzeichnet. Im späteren Verlauf können sich Leberschäden einstellen.
Die Häufigkeit wird mit 1:23.000 bis 1:130.000 angegeben.[Error: Macro 'ref' doesn't exist]
Das beim Aldolase B-Mangel die Verstoffwechselung der alimentären Fruktose über die langsamere Aldolase A erfolgen muss, kommt es zur Fructosämie. Die Fructose wiederum hemmt die Gluconeogenese und die Glycolyse, so können schwere Hypoklykämien auftreten. Diese Dysbalance des Stoffwechsels kann zu intermittierenden zerebralem Glucosemangel und damit zu akuten Allgemeinsymptomen und chronischen Leberschäden führen.
Proximaler Tubulusschaden | |
Fruktoseintoleranz ruft einen unspezifischen Nierenschaden hervor der als renotubuläres Fanconi-Syndrom bezeichnet wird. |
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