Apolipoprotein B deficiency

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Apolipoprotein B deficiency
Classification and external resources
OMIM 107730
DiseasesDB 34399
MeSH D052476

Apolipoprotein B deficiency (also known as "Familial defective apolipoprotein B-100") 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) ([1] see native LDL-ApoB structure at 37°C on YouTube) . 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.[2]:534

It is also known as "normotriglyceridemic hypobetalipoproteinemia".[3]

See also[edit]


  1. ^ Kumar V, Butcher SJ, Öörni K, Engelhardt P, Heikkonen J, et al. (2011) Three-Dimensional cryoEM Reconstruction of Native LDL Particles to 16Å Resolution at Physiological Body Temperature. [1]
  2. ^ Braunwald, Eugene; Hauser, Stephen L.; et al. (2001). Harrison's Principles of Internal Medicine. McGraw-hill. pp. 2246–2247. ISBN 0-07-007272-8. 
  3. ^ 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. PMID 15984016. doi:10.1002/ana.20531.