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Apolipoprotein B deficiency

Field	Value
name	Apolipoprotein B deficiency
image	Autosomal dominant - en.svg
field	Medical genetics
synonyms	Familial defective apolipoprotein B-100

Apolipoprotein B deficiency is an autosomal dominant disorder resulting from a missense mutation which reduces the affinity of apoB-100 for the low-density lipoprotein receptor (LDL Receptor). This causes impairments in LDL catabolism, resulting in increased levels of low-density lipoprotein in the blood. The clinical manifestations are similar to diseases produced by mutations of the LDL receptor, such as familial hypercholesterolemia. Treatment may include, niacin or statin or ezetimibe.

It is also known as "normotriglyceridemic hypobetalipoproteinemia".

References

(July 2005). "Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemia". Ann. Neurol..

Info: Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

skin-conditions-resulting-from-errors-in-metabolism lipid-metabolism-disorders

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