Hypobetalipoproteinemia with Abnormal Prebetalipoprotein
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 associated with hypothyroidism.
A 55-year-old Japanese woman with familial hypobetalipoproteinemia associated with hypothyroidism was admitted to the hospital because of orthopnea and congestive heart failure. Thyroid function testing revealed hypothyroidism, but she exhibited low levels of serum cholesterol (111 mg/dl) and apolipoprotein (apo) B (48.5 mg/dl). No abnormal bands were detected with gradient sodium dodecyl sulfa...
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 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 کاملHepatic and cardiovascular consequences of familial hypobetalipoproteinemia.
OBJECTIVE Individuals with familial hypobetalipoproteinemia (FHBL) have been reported to be prone to fatty liver disease (FLD). Conversely, the profound reduction of low-density lipoprotein (LDL) cholesterol in this disorder might decrease cardiovascular risk. In the present study, we assessed hepatic steatosis as well as noninvasive surrogate markers for cardiovascular disease (CVD) in subject...
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ژورنال
عنوان ژورنال: The Journal of Japan Atherosclerosis Society
سال: 1976
ISSN: 0386-2682,2185-8284
DOI: 10.5551/jat1973.3.4_373