Hyperbetalipoproteinemia

Other genetic variants of apoproteins common to people of European descent include hyperbetalipoprotein or familial defective apoB-100, in which there is an absence of normal apoprotein B-100 due to an amino acid substitution in the B-100 structure. With an abnormal structure of apoprotein B, there is a lack of

LDL uptake by the steroid-generating tissues because of poor receptor specificity. This leads to deposition of cholesterol esters in tissues, hepatomegaly, and even loss of eyesight due to clouding of the cornea.26,27,31 Heterozygote variants have some normal apoB-100 and therefore exhibit less severe problems. A pattern for a patient with hyperbetalipoproteinemia would be as follows:

Was this article helpful?

0 0
Diabetes 2

Diabetes 2

Diabetes is a disease that affects the way your body uses food. Normally, your body converts sugars, starches and other foods into a form of sugar called glucose. Your body uses glucose for fuel. The cells receive the glucose through the bloodstream. They then use insulin a hormone made by the pancreas to absorb the glucose, convert it into energy, and either use it or store it for later use. Learn more...

Get My Free Ebook


Post a comment