Published in Cureus
Chylomicron retention disease (CMRD), also known as Anderson's disease, is an autosomal recessive condition with a genetic mutation in the secretion associated Ras related GTPase 1B (SAR1B) gene, a protein coding gene. CMRD classically manifests as steatorrhea, vomiting, failure to thrive or abdominal bloating shortly after birth or in childhood. H...
Published in Autism research : official journal of the International Society for Autism Research
Autism spectrum disorder (ASD) has been associated with low cholesterol levels in a limited number of studies. However, the prevalence of hypocholesterolemia as well as the degree of association with ASD remains to be elucidated. We therefore sought to investigate the lipid profiles of a group of French-Canadian ASD individuals. The medical records...
Published in Journal of Biomedical and Clinical Research
Cholesterol is a white, waxy substance that always takes part in building each cell in the human body. The role of cholesterol in the normal functioning of the human body has been known for a long time, however, it is mainly due to its elevated levels and the health risk of it. It is less well known that low serum cholesterol levels are associated ...
Published in Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia
Cholesterol is derived via de novo synthesis and dietary absorption. Both processes can be monitored by determination of non-cholesterol sterol concentrations (lathosterol for synthesis; sitosterol and campesterol for absorption). The hypocholesterolemia that occurs during acute illness is a result of a multifactorial inability to compensate for th...
Published in Clinical Chemistry and Laboratory Medicine (CCLM)
Published in Journal of Lipid Research
Abetalipoproteinemia (ABL) and chylomicron retention disease (CMRD) are extremely rare recessive forms of hypobetalipoproteinemia characterized by intestinal lipid malabsorption and severe vitamin E deficiency. Vitamin E is often supplemented in the form of fat-soluble vitamin E acetate, but fat malabsorption considerably limits correction of the d...
Abetalipoproteinemia (ABL) and chylomicron retention disease (CMRD) are extremely rare recessive forms of hypobetalipoproteinemia characterized by intestinal lipid malabsorption and severe vitamin E deficiency. Vitamin E is often supplemented in the form of fat-soluble vitamin E acetate, but fat malabsorption considerably limits correction of the d...
Published in Journal of clinical lipidology
We report a new case of hypobetalipoproteinemia in a 44-year-old man of Peruvian origin exhibiting a heterozygous PCSK9 missense mutation (c.946 G>T, p. Gly316Cys). In vitro functional studies demonstrated that this mutation leads to a loss of function of PCSK9 on low-density lipoprotein receptor degradation. This patient exhibited liver steatosis;...
Published in Animal genetics
Cholesterol deficiency, a new autosomal recessive inherited genetic defect in Holstein cattle, has been recently reported to have an influence on the rearing success of calves. The affected animals show unresponsive diarrhea accompanied by hypocholesterolemia and usually die within the first weeks or months of life. Here, we show that whole genome ...
Published in International journal of food sciences and nutrition
The bacterium Lactobacillus reuteri LR6, an isolate from breast-fed human infant feces, was tested positive for bile tolerance and bile salt hydrolase activity. It was also evaluated as a potential probiotic with cholesterol-lowering effect in vivo. In this study, 32 male Albino rats were divided into four groups consisting of eight mice per group....
