Apolipoprotein B Familial Hypobetalipoproteinemia

An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption.

Also Known As:

Networked: 4 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Fatty Liver

Experts

1.	Desai, H G: 2 articles (01/2003 - 02/2001)
2.	Artekar, T M: 1 article (01/2003)
3.	Shah, S S: 1 article (02/2001)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Apolipoprotein B Familial Hypobetalipoproteinemia:

1.	TransaminasesIBA 10/01/1997 - "We report an asymptomatic 26-year-old man with persistently raised transaminases, in whom the diagnosis of heterozygous (familial) apolipoprotein B deficiency was made on the basis of characteristic lipid profile." 02/01/2001 - "Fatty liver and elevated transaminases with heterozygous apolipoprotein B deficiency." 10/01/1997 - "Homozygous apolipoprotein B deficiency can present with fatty liver and raised levels of transaminases. "
2.	LDL CholesterolIBA 01/01/2003 - "Heterozygous apolipoprotein B deficiency is an uncommon cause of transaminase elevation, as indicated by low levels of cholesterol and low density lipoprotein-cholesterol. "
3.	CholesterolIBA 01/01/2003 - "Heterozygous apolipoprotein B deficiency is an uncommon cause of transaminase elevation, as indicated by low levels of cholesterol and low density lipoprotein-cholesterol. "
4.	ApolipoproteinsIBA 02/28/1995 - "To examine the consequences of apolipoprotein B deficiency in mice, we used gene targeting in mouse embryonic stem cells to generate mice containing an insertional disruption of the 5' region of the apolipoprotein B gene. "