Abetalipoproteinemia (Bassen Kornzweig Syndrome)

An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL.

Also Known As:

Networked: 225 relevant articles (2 outcomes, 23 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Hypobetalipoproteinemias (Hypobetalipoproteinemia)
2.	Hyperlipoproteinemia Type II (Familial Hypercholesterolemia)
3.	Dyslipidemias (Dyslipidemia)
4.	Tangier Disease
5.	Fibrosis (Cirrhosis)

Experts

1.	Tarugi, Patrizia: 11 articles (01/2016 - 01/2004)
2.	Di Leo, Enza: 8 articles (01/2016 - 01/2004)
3.	Sassolas, Agnès: 6 articles (07/2013 - 08/2009)
4.	Magnolo, Lucia: 5 articles (01/2016 - 12/2007)
5.	Hussain, M Mahmood: 5 articles (10/2015 - 06/2006)
6.	Hooper, Amanda J: 4 articles (11/2015 - 07/2006)
7.	Burnett, John R: 4 articles (11/2015 - 07/2006)
8.	Iqbal, Jahangir: 4 articles (10/2015 - 05/2003)
9.	Davidson, Nicholas O: 4 articles (10/2015 - 02/2006)
10.	Calandra, Sebastiano: 4 articles (01/2013 - 01/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Abetalipoproteinemia:

1.	Vitamin EFDA LinkGeneric 01/01/1987 - "In abetalipoproteinemia, which is the most severe deficiency state known in man, development of the associated spinocerebellar syndrome can be prevented by early vitamin E therapy. " 01/01/1982 - "Effect of large oral doses of vitamin E on the neurological sequelae of patients with abetalipoproteinemia." 11/01/2015 - "Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia." 01/01/1985 - "Vitamin E is also useful in prevention of neuropathy and retinopathy associated with abetalipoproteinemia and cystic fibrosis. " 01/01/1985 - "Arrest of neuropathy and myopathy in abetalipoproteinemia with high-dose vitamin E therapy."
2.	VitaminsIBA 01/01/2014 - "In the event of a successful conception, issues arise in vitamin supplementation, the mainstay of treatment of abetalipoproteinemia. " 01/01/2014 - "A successful spontaneous pregnancy in abetalipoproteinemia: Amsterdam or the art of vitamin replacement?" 08/01/2006 - "Abetalipoproteinemia (ABL) is a metabolic disorder resulting in poor absorption of fat-soluble vitamins. " 02/01/2004 - "Enhanced oxidative stress is not apparent in the plasma of abetalipoproteinemia patients receiving long-term supplementation with vitamins E and A." 02/01/2004 - "Patients with abetalipoproteinemia develop progressive ataxic neuropathy and retinopathy that are thought to be due, in part, to oxidative damage resulting from deficiencies of vitamins E and A. "
3.	alpha-TocopherolFDA Link 07/01/2006 - "We also studied 3 children-2 with homozygous FHBL (apoB-30.9) and 1 with abetalipoproteinemia-who were receiving alpha-tocopherol supplementation. " 07/01/1994 - "The ability to discriminate between stereoisomers of alpha-tocopherol was studied in five patients with abetalipoproteinemia (ABL) because an impairment in secretion of apolipoprotein B-containing lipoproteins might impede the normally enhanced plasma transport of RRR-alpha-tocopherol. " 11/01/2003 - "The PLGA microsphere preparation of alpha-tocopherol is expected to be a very useful drug delivery system in vitamin E supplementation therapy for abetalipoproteinemia." 11/01/2003 - "To assess the potential clinical value of alpha-tocopherol-loaded poly (DL-lactic-co-glycolic acid) (PLGA) microspheres, we examined the disposition kinetics of alpha-tocopherol after administration of the microspheres to apolipoprotein B (apo B) knockout mice as a model of abetalipoproteinemia. "
4.	polylactic acid-polyglycolic acid copolymer (PLGA)IBA 11/01/2003 - "The PLGA microsphere preparation of alpha-tocopherol is expected to be a very useful drug delivery system in vitamin E supplementation therapy for abetalipoproteinemia." 11/01/2003 - "To assess the potential clinical value of alpha-tocopherol-loaded poly (DL-lactic-co-glycolic acid) (PLGA) microspheres, we examined the disposition kinetics of alpha-tocopherol after administration of the microspheres to apolipoprotein B (apo B) knockout mice as a model of abetalipoproteinemia. "
5.	Lipoproteins (Lipoprotein)IBA 04/02/1999 - "The goal of this study was to examine if expression of MTP, whose genetic deletion is responsible for the human recessive disorder abetalipoproteinemia, would recapitulate the lipoprotein assembly pathway in CHO cells. " 08/01/1990 - "Modified one step EIA by sandwich method is highly sensitive and serum has to be diluted by 1,000-3,000 times, but suited for the diagnosis of hypo or abetalipoproteinemia, detailed analyses of lipoprotein subfractions and in vitro study of lipoprotein metabolism. " 06/01/1981 - "Here we describe studies designed to gain better insight into (i) the interrelationship between the composition of lipoprotein and red blood cell membrane in abetalipoproteinemia patients and normal controls; and (ii) how the differences in lipid composition of the red blood cell membrane affect its fluidity. " 05/01/2003 - "Absence of this lipid transfer activity in the microsomes of abetalipoproteinemia patients established its pivotal function in lipoprotein assembly. " 03/05/1999 - "Liver-specific inactivation of the abetalipoproteinemia gene completely abrogates very low density lipoprotein/low density lipoprotein production in a viable conditional knockout mouse."
6.	ApolipoproteinsIBA 12/01/1993 - "Biochemical and genetic studies show that abetalipoproteinemia is not a defect of lipid biosynthesis or of the apolipoprotein B gene. " 06/01/1996 - "Translocation of apolipoprotein B across the endoplasmic reticulum is blocked in abetalipoproteinemia." 01/15/1992 - "Genetic analysis of a Japanese family with normotriglyceridemic abetalipoproteinemia indicates a lack of linkage to the apolipoprotein B gene." 09/01/1991 - "The significance of mucosal apolipoprotein B content in abetalipoproteinemia is discussed in terms of factors controlling apolipoprotein B synthesis in normal mucosa and in abetalipoproteinemia." 08/01/1991 - "Intestinal and hepatic apolipoprotein B gene expression in abetalipoproteinemia."
7.	Apolipoproteins B (ApoB)IBA 01/01/1993 - "In one family, heterozygotes had very low apo B levels and their major HDL subfraction was HDL2 as in abetalipoproteinemia, whereas in the second family heterozygotes had apo B levels approximately half on normal and the major HDL subfraction was HDL3 with an HDL elution pattern intermediate between that observed in abetalipoproteinemia and normal subjects. " 01/01/1982 - "The propositus has total abetalipoproteinemia associated with a partial apoprotein B defect. " 01/01/1982 - "[Asymptomatic abetalipoproteinemia associated with partial apoprotein B deficiency: a familial case report]." 11/01/1991 - "Suncus may be a candidate for an animal model of abetalipoproteinemia as well as fatty liver due to a defect of apo B synthesis." 10/30/1992 - "To study the extent of interaction between these particles, apo B-free plasma prepared by the selective removal of apo B-containing lipoproteins (LpB) from the plasma of three normolipidemic (NL) subjects and whole plasma from two patients with abetalipoproteinemia (ABL) were incubated at 37 degrees C for 24 h. "
8.	CholesterolIBA 01/01/1980 - "Lipid metabolism in abetalipoproteinemia: a study of cholesterol absorption and sterol balance in two patients." 03/01/1989 - "Previous reports in which cholesterol homeostasis has been examined in patients with phenotypic abetalipoproteinemia have shown an increase in whole body cholesterol synthesis when measured by sterol balance techniques but normal rates of cholesterol synthesis when measured by isotopic cholesterol turnover. " 08/01/1986 - "In general, increased plasma cholesterol levels resulted in increased stimulus-response coupling (type II), whereas increased triglyceride levels resulted in decreased coupling (type V, Tangier), and there was no apparent alteration in the coupling mechanism with overall reduction in plasma lipid levels as in abetalipoproteinemia." 12/01/1983 - "Thus, total body turnover rate of cholesterol was quite normal in abetalipoproteinemia, confirming previous reports. " 12/01/1983 - "Total body turnover of cholesterol was studied in two patients with abetalipoproteinemia, a 32-year-old man and a 31-year-old woman. "
9.	ChylomicronsIBA 06/01/2013 - "An absence of MTP leads to marked reduction in chylomicrons and VLDL, causing abetalipoproteinemia. " 02/01/1987 - "This recessively transmitted condition differs from abetalipoproteinemia and from the homozygous form of hypobetalipoproteinemia and may be caused by a defect in the final assembly of chylomicrons or in the mechanism of their exocytosis." 11/18/1994 - "Recent studies showing that an absence of MTP is a cause of abetalipoproteinemia indicate that MTP is required for the assembly of very low density lipoproteins in the liver and chylomicrons in the intestine. " 08/01/2007 - "Abetalipoproteinemia (ABL) and Anderson's disease (AD) are characterized by an inability to export alimentary lipids as chylomicrons that result in fat loading of enterocytes. " 05/01/2000 - "It was recently demonstrated that abetalipoproteinemia, a disease characterized as an inability to produce chylomicrons and very low density lipoproteins in the intestine and liver, respectively, is the result of a genetic absence of MTP. "
10.	VLDL LipoproteinsIBA 11/01/1991 - "We determined the temperature-dependent steady-state fluorescence anisotropy (r) of these fluorophores in the four major classes of lipoproteins: VLDL, LDL, HDL2, HDL3 and in abnormal HDL from abetalipoproteinemia patients (HDLab). " 11/18/1994 - "Recent studies showing that an absence of MTP is a cause of abetalipoproteinemia indicate that MTP is required for the assembly of very low density lipoproteins in the liver and chylomicrons in the intestine. " 05/01/2000 - "It was recently demonstrated that abetalipoproteinemia, a disease characterized as an inability to produce chylomicrons and very low density lipoproteins in the intestine and liver, respectively, is the result of a genetic absence of MTP. " 11/06/1992 - "Abetalipoproteinemia is a human genetic disease that is characterized by a defect in the assembly or secretion of plasma very low density lipoproteins and chylomicrons. " 05/01/1988 - "Transfer activities were measured in plasma fractions of d greater than 1.21 g/ml in 2 patients with abetalipoproteinemia and 12 normal volunteers and were expressed as a percent transfer of labeled lipid from donor high density lipoproteins to acceptor very low density lipoproteins. "

Therapies and Procedures

1.	Microspheres (Microsphere) 11/01/2003 - "The PLGA microsphere preparation of alpha-tocopherol is expected to be a very useful drug delivery system in vitamin E supplementation therapy for abetalipoproteinemia." 11/01/2003 - "To assess the potential clinical value of alpha-tocopherol-loaded poly (DL-lactic-co-glycolic acid) (PLGA) microspheres, we examined the disposition kinetics of alpha-tocopherol after administration of the microspheres to apolipoprotein B (apo B) knockout mice as a model of abetalipoproteinemia. "
2.	Liver Transplantation 08/01/1991 - "A 20-year-old woman with abetalipoproteinemia underwent orthotopic liver transplantation for cirrhosis, affording access to her liver and small intestine for study. "
3.	Deep Brain Stimulation 01/01/2012 - "Deep brain stimulation for the treatment of tremor and ataxia associated with abetalipoproteinemia."