Variable expression of familial heterozygous hypobetalipoproteinemia: transient malabsorption during infancy.
نویسندگان
چکیده
منابع مشابه
Heterozygous hypobetalipoproteinemia with fasting chylomicronemia.
We describe a disorder in which low-density lipoprotein (LDL)-cholesterol and apolipoprotein B are in low concentration (0.47 mmol/L and 0.28 g/L, respectively) and chylomicrons are still present in plasma after an 18-h fast. The d less than 1.006 fraction was isolated by flotation ultracentrifugation and the apolipoproteins were analyzed by electrophoresis, immunoblotting with anti-apolipoprot...
متن کاملFamilial hypobetalipoproteinemia: a review.
We review the genetics and pathophysiology of familial hypobetalipoproteinemia (FHBL), a mildly symptomatic genetically heterogeneous autosomal trait. The minority of human FHBL is caused by truncation-specifying mutations of the APOB gene on chromosome 2. In seven families, linkage to chromosome 2 is absent, linkage is instead to chromosome 3 (3p21). In others, linkage is absent to both APOB a...
متن کاملTransient Carbohydrate Malabsorption and Intolerance in Diarrheal Diseases of Infancy
Carbohydrate intolerance has been shown to be common during and immediately following an episode of diarrhea, particularly in infancy and childhood. When these infants and children are maintained on diets with high concentrations of a specific carbohydrate or class of carbohydrates, the symptoms will continue and often increase in severity. On removal of the carbohydrate(s) from their diet for ...
متن کاملFamilial Hypobetalipoproteinemia-Induced Nonalcoholic Steatohepatitis
Familial hypobetalipoproteinemia (FHBL) is a rare genetic disorder of lipid metabolism that is associated with abnormally low serum levels of low-density lipoprotein (LDL) cholesterol and apolipoprotein B. It is an autosomal co-dominant disorder, and depending on zygosity, the clinical manifestations may vary from none to neurological, endocrine, hematological or liver dysfunction. Nonalcoholic...
متن کاملDecreased production rates of VLDL triglycerides and ApoB-100 in subjects heterozygous for familial hypobetalipoproteinemia.
Familial hypobetalipoproteinemia (FHBL) is an autosomal codominant disorder characterized by low levels of apolipoprotein (apo) B and low-density lipoprotein (LDL) cholesterol. Decreased production rates of apoB have been demonstrated in vivo in FHBL heterozygotes. In the present study, we wished to investigate whether the transport of triglycerides was similarly affected in these subjects. The...
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ژورنال
عنوان ژورنال: Journal of Lipid Research
سال: 1994
ISSN: 0022-2275
DOI: 10.1016/s0022-2275(20)39923-5