Apolipoprotein B deficiency
| Apolipoprotein B deficiency | |
|---|---|
| Other names | Familial defective apolipoprotein B-100 |
 | |
| Specialty | Medical genetics |
Apolipoprotein B deficiency or "familial hypobetalipoproteinemia" is an autosomal disorder caused by one of several possible mutations, either recessive or dominant. In all such cases, it is characterized by low levels of low-density lipoprotein and apoB-100. Affected patients are also usually found with vitamin E deficiency.[1]
It is also known as "normotriglyceridemic hypobetalipoproteinemia".[2]
See also
References
- ↑ Whitfield AJ, Marais AD, Robertson K, Barrett PH, van Bockxmeer FM, Burnett JR (August 2003). "Four novel mutations inAPOB causing heterozygous and homozygous familial hypobetalipoproteinemia". Human Mutation. 22 (2): 178–178. doi:10.1002/humu.9163.
- ↑ 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.