Hereditary Fructose Intolerance Diagnosed in Adulthood
نویسندگان
چکیده
منابع مشابه
Hereditary fructose intolerance.
Hereditary fructose intolerance (HFI, OMIM 22960), caused by catalytic deficiency of aldolase B (fructose-1,6-bisphosphate aldolase, EC 4.1.2.13), is a recessively inherited condition in which affected homozygotes develop hypoglycaemic and severe abdominal symptoms after taking foods containing fructose and cognate sugars. Continued ingestion of noxious sugars leads to hepatic and renal injury ...
متن کاملManifestation of hereditary fructose intolerance.
Death from P. falciparum infection in subjects who live in areas of stable malaria is usually due either to cerebral involvement or to the consequences of anaemia (Edington and Gilles, 1969). Almost all the data on increased resistance against malaria have been obtained in A/S heterozygotes, and there is no a priori reason to expect that they should apply to S/S homozygotes. In addition, one ca...
متن کاملHigh liver glycogen in hereditary fructose intolerance.
A case of hereditary fructose intolerance is reported in a girl aged 2 years at the time of her death. She had apparently progressed normally until the age of 14 months. At 19 months she was admitted to hospital with failure to thrive, hepatomegaly, and superficial infections. Investigations revealed hypoglycaemia, persistent acidosis, aminoaciduria, and a high liver glycogen level which sugges...
متن کاملHereditary fructose intolerance in Brazilian patients.
Hereditary fructose intolerance (HFI) is a rare inborn error of carbohydrate metabolism, autosomal recessive, caused by mutations in the gene ALDOB, leading to deficiency of aldolase B. Symptoms begin in the first months of life with the introduction of complementary foods containing fructose, sucrose or sorbitol, often with vomiting, feeding problems and failure to thrive. Prolonged exposure m...
متن کاملHereditary fructose intolerance in a Gurkha family.
Introduction Hereditary Fructose Intolerance I~FI) began toO appear in ,the literature after Chambers and Pmj)t1 in H56 delscrilbed an aduLt with an idiosyncrasy to fruotose. Froesch, Prader and colleagues2, the following year, described, for .the 'first time the typical syndrome.o'f HP!. Since then, over one hundred patients have been described ['fOm around the world indicruting ,a wide distdb...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Gut and Liver
سال: 2021
ISSN: 1976-2283,2005-1212
DOI: 10.5009/gnl20189