20.500.12556/RUL-130561 Prehrana pri tirozinemiji tipa 1 Nutrition in Tyrosinemia type 1 Namen diplomske naloge je bil opraviti pregled literature o tirozinemiji tipa 1 in ugotoviti, kakšni so simptomi in zapleti te bolezni ter na kaj morajo biti bolniki pri svoji prehrani posebej pozorni, da jim zagotovimo čim boljšo kakovost življenja in preživetja. Tirozinemija tipa 1 je prirojena motnja v presnovi aminokisline tirozin za-radi zmanjšane ali odsotne aktivnosti encima fumarilacetoacetat hidrolaze (FAH), kar se v poteku bolezni kaže kot napredujoča jetrna okvara, motnja delovanja led-vičnih tubulov in porfiriji podobne presnovne krize. Glede na raziskave je ugotov-ljeno, da morajo bolniki takoj po potrditvi diagnoze (ali že, ko je glede na izvide opravljenih preiskav le-ta zelo verjetna) začeti zdravljenje z nitizinonom ter urgentno zdravljenje akutne jetrne odpovedi, v kolikor je to potrebno. Vzporedno s temi ukrepi se uvede tudi omejitev vnosa beljakovin s hrano (omejitev vnosa aminokisli-ne tirozin in fenilalanin). V diplomski nalogi smo prišli do zaključka, da mora vsa-kega bolnika redno spremljati zdravnik specialist, ki je usmerjen v delo s prirojenimi presnovnimi boleznimi in klinični dietetik. Nedvomno pa mora bolnik doživljenjsko jemati zdravilo nitizinon in upoštevati strogo dieto. The purpose of this thesis was to conduct an overview of the literature on tyro-sinemia type 1 in order to determine the symptoms and complications of the disease and what the patients should pay special attention in their diet to ensure the best possible quality of life and survival. Tyrosinemia type 1 is a congenital disease of catabolism of the amino acid tyrosine due to decreased or absent activity of the en-zyme fumarylacetoacetate hydrolase (FAH), which in the course of the disease manifests itself as progressive hepatic impairment, renal tubular dysfunction and porphyria-like metabolic crisis. According to research, it has been established that patients should start treatment with nitisinone and urgent treatment of acute liver failure, if necessary. In parallel with these measures, restrictions on dietary protein intake (restriction of tyrosine and phenylalanine) are also introduced. In this thesis, we came to the conclusion that every patient should be regularly monitored by a specialised doctor who is focused on working with congenital metabolic diseases and clinical dietitian. Undoubtedly, the patient must take nitisinone for life and fol-low a strict diet. prehrana prehranska terapija tirozinemija tipa 1 zdravljenje nutrition nutritional therapy diet tyrosinemia type 1 treatment true false false [A. Poharc] Slovenski jezik Angleški jezik Diplomsko delo/naloga 2021-09-16 08:15:39 2021-09-16 08:15:41 2022-09-09 04:17:01 0000-00-00 00:00:00 2021 0 Ljubljana 0 0000-00-00 NiDoloceno NiDoloceno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 613.2+641.56:577.122.5 196674 76353283 19323.pdf 19323.pdf 1 8F164CC0C5ACD6899B6DE4FB1004981F e45f0470f55327da6a47dc109728afb0d462d8a3d88590b51f28df6f917330f7 4413c7e3-16b5-11ec-a523-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=147690 Biotehniška fakulteta 0 0 0