Abetalipoproteinemia (Bassen Kornzweig Syndrome)

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178 relevant articles (1 outcomes, 24 trials/studies) found for this Disease

Description: 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:

Bassen Kornzweig Syndrome; Bassen-Kornzweig Disease; Microsomal Triglyceride Transfer Protein Deficiency Disease; Bassen Kornzweig Disease; Bassen-Kornzweig Syndrome; Microsomal Triglyceride Transfer Protein Deficiency

Relationship Network

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 420

Inborn Genetic Diseases: 548

Inborn Errors Metabolism: 401

Inborn Errors Lipid Metabolism

Hypolipoproteinemias: 24

Hypobetalipoproteinemias: 162

Abetalipoproteinemia: 178

Nutritional and Metabolic Diseases

Metabolic Diseases: 1264

Inborn Errors Metabolism: 401

Inborn Errors Lipid Metabolism

Hypolipoproteinemias: 24

Hypobetalipoproteinemias: 162

Abetalipoproteinemia: 178

Lipid Metabolism Disorders: 85

Dyslipidemias: 3798

Hypolipoproteinemias: 24

Hypobetalipoproteinemias: 162

Abetalipoproteinemia: 178

Related Diseases

1.	Hyperlipoproteinemia Type II (Familial Hypercholesterolemia)
2.	Dyslipidemias (Dyslipidemia)
3.	Hypobetalipoproteinemias (Hypobetalipoproteinemia)
4.	Tangier Disease
5.	Fibrosis (Cirrhosis)
42 Diseases and 58 more articles analyzed in the Research Interface, order at left...

Experts

1.	Berriot-Varoqueaux, N: 2 articles (11/2001 - 05/2000)
2.	Aggerbeck, L P: 2 articles (11/2001 - 05/2000)
3.	Kohen, Ron: 1 article (02/2004)
4.	Granot, Esther: 1 article (02/2004)
5.	Schmitz, J: 1 article (11/2001)
6.	Lachaux, A: 1 article (11/2001)
7.	Moreau, A: 1 article (11/2001)
8.	Munck, A: 1 article (11/2001)
9.	Verthier, N: 1 article (11/2001)
10.	Dannoura, A H: 1 article (11/2001)

Drugs and Biologics

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

1.	Vitamin E FDA Link 01/01/1982 - "Effect of large oral doses of vitamin E on the neurological sequelae of patients with abetalipoproteinemia." 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" 01/01/1985 - "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." 06/01/1992 - "The major benefits arising from elevated dosages of vitamin E have been the relief of symptoms of vitamin E deficiency in humans with abetalipoproteinemia and chronic cholestasis" Get all the results and reference details, order at left...
2.	alpha-Tocopherol FDA 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 - "CONCLUSIONS: 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 - "PURPOSE: 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" Get all the results and reference details, order at left...
3.	polylactic acid-polyglycolic acid copolymer (PLGA)IBA 11/01/2003 - "CONCLUSIONS: 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 - "PURPOSE: 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" Get all the results and reference details, order at left...
4.	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" 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" 02/01/1974 - "Whether the abetalipoproteinemia previously described and noted in the current studies is related to or independent of the abnormalities observed in the other lipoproteins was not established" 02/01/1974 - "A study of the abnormal lipoproteins in abetalipoproteinemia." 05/01/2003 - "Absence of this lipid transfer activity in the microsomes of abetalipoproteinemia patients established its pivotal function in lipoprotein assembly" Get all the results and reference details, order at left...
5.	Apolipoproteins B (ApoB)IBA 01/15/1993 - "In this study, four families were analysed for genetic linkage between the abetalipoproteinemia phenotype and the apo-B genotype determined from polymorphisms of XbaI, MsPI, EcoRI and PvuII restriction sites and that of the 3'-minisatellite of the apo-B gene" 01/15/1993 - "The results definitively exclude mutation of the apo-B gene as a causal factor of abetalipoproteinemia in three families" 01/15/1993 - "Genetic exclusion of apo-B gene in recessive abetalipoproteinemia." 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" Get all the results and reference details, order at left...
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." Get all the results and reference details, order at left...
7.	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" Get all the results and reference details, order at left...
8.	ChylomicronsIBA 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" 11/01/1993 - "The abetalipoproteinemia is a recessively inherited defect in the formation of the proteins coating chylomicrons" Get all the results and reference details, order at left...
9.	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" Get all the results and reference details, order at left...
10.	Apolipoproteins E (ApoE)IBA 12/01/2002 - "In the present study, the in vivo metabolism of apoE within the apoE-containing HDL particles LpE, LpE:A-I, LpE:A-II and LpE:A-I:A-II was assessed in control subjects and in patients with abetalipoproteinemia (ABL), in whom HDL are the sole plasma lipoproteins" 07/01/1985 - "After separating lipoproteins from whole plasma by molecular sieve chromatography followed by radioimmunoassay of column fractions, we found that two subjects with abetalipoproteinemia had no apo E-containing lipoproteins the size of VLDL or IDL and all the plasma apo E was in a fraction of large HDL" 02/01/1984 - "Apoprotein E-containing HDL subclasses, similar to those described in the blood of neonates, were present in the d less than 1.063 and d = 1.063-1.21 lipoprotein fractions of patients with abetalipoproteinemia" 01/01/1985 - "We believe that the binding of apo E to the LDL receptor is a redundant system and is used as a backup system in abnormal pathological states such as hypertriglyceridemia, abetalipoproteinemia, and hypobetalipoproteinemia" 06/01/1985 - "We hypothesize that in the fetus and neonate, as has been demonstrated in abetalipoproteinemia, apoE-rich HDL may functionally substitute for LDL in delivering cholesterol to cells." Get all the results and reference details, order at left...
118 Drugs and Important Bio-Agents and 178 more articles analyzed in the Research Interface, order at left...

Therapies and Procedures

1.	Microspheres (Microsphere) 11/01/2003 - "CONCLUSIONS: 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 - "PURPOSE: 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" Get all the results and reference details, order at left...
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" Get all the results and reference details, order at left...
2 Therapies and Procedures and 2 more articles analyzed in the Research Interface, order at left...

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