Akademska digitalna zbirka SLovenije - logo
Narodna in univerzitetna knjižnica, Ljubljana (NUK)
Naročanje gradiva za izposojo na dom
Naročanje gradiva za izposojo v čitalnice
Naročanje kopij člankov
Urnik dostave gradiva z oznako DS v signaturi
  • Dedna fruktozna intoleranca - prikaz primera = Hereditary fructose intolerance - case report
    Brecelj, Jernej ; Logar-Car, Gordana ; Peče, Henrik, 1926-2012
    Background. Hereditary fructose intolerance is a rare inborn error of carbohydrate metabolism that presents with hypoglicemia, metabolic acidosis and liver decompensation when the patient is exposed ... to fructose. Diagnosis was established by fructose tolerance test in the past and nowadays mostly by determination of deficient enzyme fructose-1-phosphate aldolase (aldolase B) activity in hepatic tissue or by molecular genetic means if the mutation is known. Treatment involves elimination (in infants) or reduction of fructose and sucrose from the diet and results in improvement in the patients clinical status and liver disease. Results. This article presents a patient with heraditary fructose intolerance who was diagnosed 18 years ago on the Department of Pediatric Gastroenterology, Ljubljana Childrens Hospital. At that time oral fructose tolerance test was used to diagnose the disorder. Whenshe was 17 we performed liver biopsy. The enzyme determination showed the absence of aldolase B activity. Conclusions. Only cooperation of different experts enables recognition of rare metabolic disorders which must be prompt to prevent further damage.
    Vir: Zdravniški vestnik : glasilo Slovenskega zdravniškega društva = Slovenian medical journal = journal of Slovenian Medical Association. - ISSN 1318-0347 (Letn. 71, št. 3, mar. 2002, str. 157-160)
    Vrsta gradiva - članek, sestavni del
    Leto - 2002
    Jezik - slovenski
    COBISS.SI-ID - 14603993

Vnos na polico