Apolipoprotein B deficiency
(Redirected from Hypercholesterolemia due to arg3500 mutation of Apo B-100)
| Apolipoprotein B deficiency | |
|---|---|
| Other names | Familial defective apolipoprotein B-100 |
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| Specialty | Medical genetics |
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.[1]: 534
It is also known as "normotriglyceridemic hypobetalipoproteinemia".[2]
See also
[edit]References
[edit]- ^ Braunwald, Eugene; Hauser, Stephen L.; et al. (2001). Harrison's Principles of Internal Medicine. McGraw-hill. pp. 2246–2247. ISBN 978-0-07-007272-5.
- ^ Homer VM, George PM, du Toit S, Davidson JS, Wilson CJ (July 2005). "Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemia". Ann. Neurol. 58 (1): 160–3. doi:10.1002/ana.20531. PMID 15984016. S2CID 6981284.