Apolipoprotein B deficiency

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

Apolipoprotein B deficiency
Other names	Familial defective apolipoprotein B-100
Specialty	Medical genetics

It is also known as "normotriglyceridemic hypobetalipoproteinemia".^[2]

See also

• Familial hypercholesterolemia