Hereditary fructose intolerance and alpha 1 antitrypsin deficiency
نویسندگان
چکیده
منابع مشابه
Hereditary fructose intolerance and á1 antitrypsin deficiency
A patient with coexisting hereditary fructose intolerance (HFI) and á1 antitrypsin deficiency (á1ATD) is described. Protease inhibitor typing was not conclusive, presumably because of impaired N-glycosylation secondary to HFI. The case underlines the diagnostic role of molecular genetic techniques in inborn errors of metabolism. (Arch Dis Child 2000;83:72–73)
متن کاملHereditary of Alpha-1-Antitrypsin Deficiency
In this review article, in addition to the clinical manifestation of the alpha 1 antitrypsin deficiency, the genetics and molecular diagnosis of the disease and the effects of the causative mutations were reviewed.
متن کاملHereditary alpha-1-antitrypsin deficiency and its clinical consequences
Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that manifests as pulmonary emphysema, liver cirrhosis and, rarely, as the skin disease panniculitis, and is characterized by low serum levels of AAT, the main protease inhibitor (PI) in human serum. The prevalence in Western Europe and in the USA is estimated at approximately 1 in 2,500 and 1 : 5,000 newborns, and is highly dependent ...
متن کاملAlpha 1 antitrypsin deficiency.
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause severe lung and liver disease.
متن کاملHereditary 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 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: Archives of Disease in Childhood
سال: 2000
ISSN: 0003-9888
DOI: 10.1136/adc.83.1.72