abetalipoproteinemia

Summary

Summary: 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.

Top Publications

  1. Wang J, Hegele R. Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia. Hum Mutat. 2000;15:294-5 pubmed
    b>Abetalipoproteinemia (ABL) is an extremely rare autosomal recessive disorder, which is characterized by defective assembly and secretion of plasma apolipoprotein (apo) B-containing lipoproteins...
  2. Chang B, Liao W, Li L, Nakamuta M, Mack D, Chan L. Liver-specific inactivation of the abetalipoproteinemia gene completely abrogates very low density lipoprotein/low density lipoprotein production in a viable conditional knockout mouse. J Biol Chem. 1999;274:6051-5 pubmed
    ..These conditional knockout mice are a useful in vivo model for studying the role of MTP in apoB biosynthesis and the biogenesis of apoB-containing lipoproteins...
  3. Triantafillidis J, Kottaras G, Peros G, Merikas E, Gikas A, Condilis N, et al. Endocrine function in abetalipoproteinemia: a study of a female patient of Greek origin. Ann Ital Chir. 2004;75:683-90 pubmed
    ..genitalia, adrenal, thyroid, parathyroid and pancreatic endocrine function of a female patient aged 37 with abetalipoproteinemia at the time of diagnosis and 5 years thereafter (after application of a modified diet)...
  4. Wetterau J, Aggerbeck L, Bouma M, Eisenberg C, Munck A, Hermier M, et al. Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. Science. 1992;258:999-1001 pubmed
    b>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...
  5. Collins J, Scheinberg I, Giblin D, Sternlieb I. Hepatic peroxisomal abnormalities in abetalipoproteinemia. Gastroenterology. 1989;97:766-70 pubmed
    Spinocerebellar degeneration in a 17-yr-old boy with abetalipoproteinemia was associated with vitamin E deficiency and hepatic steatosis...
  6. Chowers I, Banin E, Merin S, Cooper M, Granot E. Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients. Eye (Lond). 2001;15:525-30 pubmed
    ..To assess the long-term efficacy of combined vitamin A and E treatment in preventing retinal degeneration in patients with abetalipoproteinaemia (ABL) or homozygous hypobetalipoproteinaemia (HBL)...
  7. Heath K, Luong L, Leonard J, Chester A, Shoulders C, Scott J, et al. The use of a highly informative CA repeat polymorphism within the abetalipoproteinaemia locus (4q22-24). Prenat Diagn. 1997;17:1181-6 pubmed
    ..However, the marker, MTPIVS10, can be used as an alternative to the time-consuming mutation detection techniques...
  8. Berthier M, Couture P, Houde A, Paradis A, Sammak A, Verner A, et al. The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-Canadians. Mol Genet Metab. 2004;81:140-3 pubmed
    b>Abetalipoproteinemia (ABL) is a rare autosomal recessive disease characterised by the absence of apolipoprotein B (apoB) containing lipoproteins and, in consequence, very low triglyceride and cholesterol levels...
  9. Shoulders C, Brett D, Bayliss J, Narcisi T, Jarmuz A, Grantham T, et al. Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein. Hum Mol Genet. 1993;2:2109-16 pubmed
    b>Abetalipoproteinemia is an inherited disorder of lipoprotein metabolism...

More Information

Publications62

  1. Al Mahdili H, Hooper A, Sullivan D, Stewart P, Burnett J. A mild case of abetalipoproteinaemia in association with subclinical hypothyroidism. Ann Clin Biochem. 2006;43:516-9 pubmed
    ..61 + 2T > C) and a single adenine insertion in MTP exon 4 (c.419-420insA) that results in a frameshift and a protein truncated at 140 amino acids...
  2. Berriot Varoqueaux N, Aggerbeck L, Samson Bouma M, Wetterau J. The role of the microsomal triglygeride transfer protein in abetalipoproteinemia. Annu Rev Nutr. 2000;20:663-97 pubmed
    ..It was recently demonstrated that abetalipoproteinemia, a hereditary disease characterized as an inability to produce chylomicrons and very low-density ..
  3. Zamel R, Khan R, Pollex R, Hegele R. Abetalipoproteinemia: two case reports and literature review. Orphanet J Rare Dis. 2008;3:19 pubmed publisher
    b>Abetalipoproteinemia (ABL, OMIM 200100) is a rare, autosomal recessive disorder, characterized by fat malabsorption, acanthocytosis and hypocholesterolemia in infancy...
  4. Gregg R, Wetterau J. The molecular basis of abetalipoproteinemia. Curr Opin Lipidol. 1994;5:81-6 pubmed
    b>Abetalipoproteinemia is a recessive genetic disease in humans characterized by the virtual absence of apolipoprotein (apo)B and apoB-containing lipoproteins in plasma...
  5. Di Filippo M, Crehalet H, Samson Bouma M, Bonnet V, Aggerbeck L, Rabes J, et al. Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia. J Lipid Res. 2012;53:548-55 pubmed publisher
    b>Abetalipoproteinemia (ABL) is an inherited disease characterized by the defective assembly and secretion of apolipoprotein B-containing lipoproteins caused by mutations in the microsomal triglyceride transfer protein large subunit (MTP) ..
  6. Leiper J, Bayliss J, Pease R, Brett D, Scott J, Shoulders C. Microsomal triglyceride transfer protein, the abetalipoproteinemia gene product, mediates the secretion of apolipoprotein B-containing lipoproteins from heterologous cells. J Biol Chem. 1994;269:21951-4 pubmed
    ..In the rare autosomal recessive disorder abetalipoproteinemia (ABL), no triglyceride-rich lipoproteins are secreted...
  7. Gaudet L, MacKenzie J, Smith G. Fat-soluble vitamin deficiency in pregnancy: a case report and review of abetalipoproteinemia. J Obstet Gynaecol Can. 2006;28:716-719 pubmed publisher
    b>Abetalipoproteinemia (ABL) is a metabolic disorder resulting in poor absorption of fat-soluble vitamins.
  8. Chardon L, Sassolas A, Dingeon B, Michel Calemard L, Bovier Lapierre M, Moulin P, et al. Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases. Eur J Pediatr. 2009;168:983-9 pubmed publisher
    b>Abetalipoproteinemia (ABL; OMIM 200100) is an inherited disorder resulting from mutations in the microsomal triglyceride transfer protein gene and characterized by a major lipid malabsorption leading to extremely low plasma cholesterol ..
  9. Vongsuvanh R, Hooper A, Coakley J, Macdessi J, O Loughlin E, Burnett J, et al. Novel mutations in abetalipoproteinaemia and homozygous familial hypobetalipoproteinaemia. J Inherit Metab Dis. 2007;30:990 pubmed
    ..Future patients presenting with FHBL or ABL should be genotyped to provide further insight into the varying clinical severity related to molecular heterogenicity in these two conditions...
  10. Braegger C, Belli D, Mentha G, Steinmann B. Persistence of the intestinal defect in abetalipoproteinaemia after liver transplantation. Eur J Pediatr. 1998;157:576-8 pubmed
    ..After this procedure her serum lipoprotein profile was corrected; however, fat malabsorption and steatorrhea persisted because the primary defect, a mutant microsomal triglyceride-transfer protein, remains expressed in the intestine...
  11. Ohashi K, Ishibashi S, Osuga J, Tozawa R, Harada K, Yahagi N, et al. Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia. J Lipid Res. 2000;41:1199-204 pubmed
    b>Abetalipoproteinemia (ABL) is an inherited disease characterized by the virtual absence of apolipoprotein B (apoB)-containing lipoproteins from plasma...
  12. Sani M, Sabbaghian M, Mahjoob F, Cefal├╣ A, Averna M, Rezaei N. Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia. Ann Hepatol. 2011;10:221-6 pubmed
    b>Abetalipoproteinemia (ABL), or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia retinitis pigmentosa, progressive neuropathy and ..
  13. Al Shali K, Wang J, Rosen F, Hegele R. Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia. Clin Genet. 2003;63:135-8 pubmed
    b>Abetalipoproteinemia (ABL) is a rare autosomal recessive disorder that is characterized by defective assembly and secretion of plasma apolipoprotein (apo) B-containing lipoproteins...
  14. Granot E, Kohen R. Oxidative stress in abetalipoproteinemia patients receiving long-term vitamin E and vitamin A supplementation. Am J Clin Nutr. 2004;79:226-30 pubmed
    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.
  15. Zeissig S, Dougan S, Barral D, Junker Y, Chen Z, Kaser A, et al. Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function. J Clin Invest. 2010;120:2889-99 pubmed publisher
    b>Abetalipoproteinemia (ABL) is a rare Mendelian disorder of lipid metabolism due to genetic deficiency in microsomal triglyceride transfer protein (MTP)...
  16. Narcisi T, Shoulders C, Chester S, Read J, Brett D, Harrison G, et al. Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. Am J Hum Genet. 1995;57:1298-310 pubmed
    ..In the rare recessively inherited disorder abetalipoproteinemia (ABL) the production of apoB-containing lipoproteins is abolished, despite no abnormality of the apoB gene...
  17. Di Leo E, Lancellotti S, Penacchioni J, Cefal├╣ A, Averna M, Pisciotta L, et al. Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia. Atherosclerosis. 2005;180:311-8 pubmed
    Familial hypobetalipoproteinemia (FHBL) and abetalipoproteinemia (ABL) are inherited disorders of apolipoprotein B (apo B)-containing lipoproteins that result from mutations in apo B and microsomal triglyceride transfer protein (MTP) ..
  18. Benayoun L, Granot E, Rizel L, Allon Shalev S, Behar D, Ben Yosef T. Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient. Mol Genet Metab. 2007;90:453-7 pubmed
    b>Abetalipoproteinemia (ABL) is a rare autosomal recessive metabolic disorder, characterized by the absence of plasma apolipoprotein B-containing lipoproteins and very low levels of plasma triglycerides and cholesterol...
  19. Yang X, Inazu A, Yagi K, Kajinami K, Koizumi J, Mabuchi H. Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene. Arterioscler Thromb Vasc Biol. 1999;19:1950-5 pubmed
    ..b>Abetalipoproteinemia (ABL) is a rare autosomal recessive deficiency of apoB-containing lipoproteins caused by a microsomal ..
  20. Sharp D, Blinderman L, Combs K, Kienzle B, Ricci B, Wager Smith K, et al. Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia. Nature. 1993;365:65-9 pubmed
  21. Sakamoto O, Abukawa D, Takeyama J, Arai N, Nagano M, Hattori H, et al. An atypical case of abetalipoproteinaemia with severe fatty liver in the absence of steatorrhoea or acanthocytosis. Eur J Pediatr. 2006;165:68-70 pubmed
  22. Hardman D, Pullinger C, Hamilton R, Kane J, Malloy M. Molecular and metabolic basis for the metabolic disorder normotriglyceridemic abetalipoproteinemia. J Clin Invest. 1991;88:1722-9 pubmed
    We have previously described a disorder, normotriglyceridemic abetalipoproteinemia, that is characterized by the virtual absence of plasma low density lipoproteins and complete absence of apoB-100, but with apparently normal secretion of ..
  23. Raabe M, Flynn L, Zlot C, Wong J, Veniant M, Hamilton R, et al. Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes. Proc Natl Acad Sci U S A. 1998;95:8686-91 pubmed
    b>Abetalipoproteinemia, an inherited human disease characterized by a near-complete absence of the apolipoprotein (apo) B-containing lipoproteins in the plasma, is caused by mutations in the gene for microsomal triglyceride transfer protein ..
  24. Shoulders C, Narcisi T, Read J, Chester A, Brett D, Scott J, et al. The abetalipoproteinemia gene is a member of the vitellogenin family and encodes an alpha-helical domain. Nat Struct Biol. 1994;1:285-6 pubmed
  25. Ikewaki K, Rader D, Zech L, Brewer H. In vivo metabolism of apolipoproteins A-I and E in patients with abetalipoproteinemia: implications for the roles of apolipoproteins B and E in HDL metabolism. J Lipid Res. 1994;35:1809-19 pubmed
    ..b>Abetalipoproteinemia (ABL), a genetic disease in which apoB is absent from the plasma and HDL are the sole plasma lipoproteins, ..
  26. Segal S, Sharma S. Ophthaproblem. Vitamin A and vitamin E. Can Fam Physician. 2005;51:1079, 1085-6 pubmed
  27. Soejima N, Ohyagi Y, Kikuchi H, Murai H, Shigeto H, Kira J. [An adult case of probable Bassen-Kornzweig syndrome, presenting resting tremor]. Rinsho Shinkeigaku. 2006;46:702-6 pubmed
    ..Mild hypoperfusion was found in the striatum of the present cases: indicating that her tremor was associated with striatonigral damage. Thus, careful observation of extrapyramidal signs is necessary in abeta- or hypo-betalipoproteinemia...
  28. Pons V, Rolland C, Nauze M, Danjoux M, Gaibelet G, Durandy A, et al. A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP). Hum Mutat. 2011;32:751-9 pubmed publisher
    b>Abetalipoproteinemia is a rare autosomal recessive disease characterized by low lipid levels and by the absence of apoB-containing lipoproteins. It is the consequence of microsomal triglyceride transfer protein (MTTP) deficiency...
  29. Guilmeau S, Niot I, Laigneau J, Devaud H, Petit V, Brousse N, et al. Decreased expression of Intestinal I- and L-FABP levels in rare human genetic lipid malabsorption syndromes. Histochem Cell Biol. 2007;128:115-23 pubmed
    ..b>Abetalipoproteinemia (ABL) and Anderson's disease (AD) are characterized by an inability to export alimentary lipids as ..
  30. Pautler D, Easley D, Pohl J. Abetalipoproteinemia. J Pediatr Gastroenterol Nutr. 2008;46:355 pubmed publisher
  31. Rivera A, Kam S, Ho M, Romero J, Lee S. Ablation of the Kell/Xk complex alters erythrocyte divalent cation homeostasis. Blood Cells Mol Dis. 2013;50:80-5 pubmed publisher
    ..Our results provide evidence that cellular divalent cation regulation is functionally coupled to the Kell/XK system in erythrocytes and loss of this complex may contribute to acanthocytosis formation in McLeod syndrome...
  32. Stafforini D, Carter M, Zimmerman G, McIntyre T, Prescott S. Lipoproteins alter the catalytic behavior of the platelet-activating factor acetylhydrolase in human plasma. Proc Natl Acad Sci U S A. 1989;86:2393-7 pubmed
    ..We have pursued this observation by using plasma from humans with lipoprotein mutations. In abetalipoproteinemia, all of the PAF acetylhydrolase activity was in HDL, whereas in Tangier disease all of the activity was in ..
  33. Willemin B, Coumaros D, Zerbe S, Weill Bousson M, Annonier P, Hirsch E, et al. [Abetalipoproteinemia. Apropos of 2 cases]. Gastroenterol Clin Biol. 1987;11:704-8 pubmed
    The cases of two sisters with abetalipoproteinemia are reported...
  34. White D, Bennett A, Billett M, Salter A. The assembly of triacylglycerol-rich lipoproteins: an essential role for the microsomal triacylglycerol transfer protein. Br J Nutr. 1998;80:219-29 pubmed
    ..The present review summarizes current knowledge of the role of MTP in the assembly and secretion of triacylglycerol-rich lipoproteins, and the regulation of its activity in both animal and cell systems...
  35. Triantafillidis J, Kottaras G, Sgourous S, Cheracakis P, Driva G, Konstantellou E, et al. A-beta-lipoproteinemia: clinical and laboratory features, therapeutic manipulations, and follow-up study of three members of a Greek family. J Clin Gastroenterol. 1998;26:207-11 pubmed
  36. Kaneko M, Ohni M, Sugiyama Y, Mizukawa S, Toba K, Sakamoto A, et al. Autopsy case of Dubin-Johnson syndrome with pneumonia and abetalipoproteinemia-like lipid profile. J Atheroscler Thromb. 2006;13:158-61 pubmed
    ..report the autopsy of a 79-year-old Japanese woman with Dubin-Johnson syndrome accompanied by pneumonia, an abetalipoproteinemia-like lipid profile and acanthocytosis...
  37. Banerji B, Subbaiah P, Gregg R, Bagdade J. Molecular species of phosphatidylcholine in abetalipoproteinemia: effect of lecithin:cholesterol acyltransferase and lysolecithin acyltransferase. J Lipid Res. 1989;30:1907-16 pubmed
    ..These results indicate that the absence of apoB-containing lipoproteins significantly affects the molecular species composition of plasma PC as well as its metabolism by LCAT and LAT reactions...
  38. Hardie R. Acanthocytosis and neurological impairment--a review. Q J Med. 1989;71:291-306 pubmed
    ..The exact mechanism of acanthocytosis in each disorder remains uncertain: passive changes in membrane lipids, surface receptor/ligand interactions, and a primary membrane defect are among the possibilities...
  39. Palmer A, Knudtson E. Abetalipoproteinemia complicating the puerperium. Obstet Gynecol. 2008;111:575-7 pubmed publisher
    b>Abetalipoproteinemia is a rare, autosomal recessive disease, in which the absence of beta-lipoprotein results in the malabsorption of fat-soluble vitamins. There are few reported complications from abetalipoproteinemia during pregnancy...
  40. Hegele R. Familial hypercholesterolemia. N Engl J Med. 2007;356:1779; author reply 1779-80 pubmed
  41. Copp R, Wisniewski T, Hentati F, Larnaout A, Ben Hamida M, Kayden H. Localization of alpha-tocopherol transfer protein in the brains of patients with ataxia with vitamin E deficiency and other oxidative stress related neurodegenerative disorders. Brain Res. 1999;822:80-7 pubmed
    ..and patients with Alzheimer's disease (AD), Down's syndrome (DS), cholestatic liver disease (CLD) and abetalipoproteinemia (ABL). The neuropathology of both AD and DS is thought to be related in part to oxidative stress...
  42. Scanu A, Aggerbeck L, Kruski A, Lim C, Kayden H. A study of the abnormal lipoproteins in abetalipoproteinemia. J Clin Invest. 1974;53:440-53 pubmed
    The serum lipoproteins of five patients with abetalipoproteinemia (ABL) were separated by ultracentrifugation and then analyzed either intact or after delipidation...
  43. Ohashi K. [Abetalipoproteinemia]. Nihon Rinsho. 2007;65 Suppl 7:588-91 pubmed
  44. Miller G, Mitropoulos K, Nanjee M, Howarth D, Martin J, Esnouf M, et al. Very low activated factor VII and reduced factor VII antigen in familial abetalipoproteinaemia. Thromb Haemost. 1998;80:233-8 pubmed
    ..Mean factor XI activity and tissue factor pathway inhibitor activity were reduced in patients to 70% and 75% of control values respectively, while factor XII, factor XI antigen, factor X, prothrombin and protein C were normal...
  45. Pessah M, Beucler I, Loux N, Navarro J, Guillerd X, Dulac O, et al. Genetic exclusion of apo-B gene in recessive abetalipoproteinemia. Biochem Biophys Res Commun. 1993;190:97-103 pubmed
    b>Abetalipoproteinemia is a recessive genetic disorder of unknown origin, which is characterized by absence of circulating apo-B-containing lipoproteins, malabsorption of intestinal fat, and degenerative neurological and retinal lesions...
  46. Rader D, Brewer H. Abetalipoproteinemia. New insights into lipoprotein assembly and vitamin E metabolism from a rare genetic disease. JAMA. 1993;270:865-9 pubmed
    b>Abetalipoproteinemia is a rare genetic disease that has provided important new insights into the physiology of lipoprotein assembly and vitamin E metabolism...
  47. Muller D. Vitamin E and neurological function. Mol Nutr Food Res. 2010;54:710-8 pubmed publisher
    ..The possible reasons why neural tissues should be particularly affected by a deficiency of this fat-soluble vitamin and the mechanism(s) involved will be considered...
  48. Holmquist L, Carlson L, Lloyd J. Substrate specificity of plasma lecithin: cholesterol acyltransferase in abetalipoproteinemia. Acta Med Scand. 1988;224:135-9 pubmed
    The lecithin: cholesterol acyltransferase (LCAT) activity of lipoprotein-depleted plasma from a patient with abetalipoproteinemia has been assayed in a modified Glomset-Wright incubation system with three different normal lipoprotein ..
  49. Stevenson V, Hardie R. Acanthocytosis and neurological disorders. J Neurol. 2001;248:87-94 pubmed
    ..Recent advances in molecular genetics may assist better understanding of the disease mechanisms and the search for more effective treatments...
  50. Rizzo M, Wierzbicki A. New lipid modulating drugs: the role of microsomal transport protein inhibitors. Curr Pharm Des. 2011;17:943-9 pubmed
    ..Its deficiency results in abetalipoproteinemia. MTP inhibitors target the assembly and secretion of apolipoprotein B-containing lipoproteins...
  51. Dieckert J, White M, Christmann L, Lambert H. Angioid streaks associated with abetalipoproteinemia. Ann Ophthalmol. 1989;21:173-5, 179 pubmed
    Angioid streaks were observed in a 31-year-old man with abetalipoproteinemia. Angioid streaks have now been described in hereditary spherocytosis, beta thalassemia, alpha thalassemia, sickle cell anemia, and acanthocytosis secondary to ..
  52. Krysiak R, Okopie B. Chronic adrenal failure and hypergonadotropic hypogonadism in a patient with abetalipoproteinemia. Eur Rev Med Pharmacol Sci. 2012;16 Suppl 4:95-7 pubmed
    b>Abetalipoproteinemia is a rare inherited disorder characterized by very low plasma levels of cholesterol and triglycerides, secondary to a dramatic decrease in apolipoprotein B-containing lipoproteins, which is induced by a mutation in ..
  53. Berriot Varoqueaux N, Dannoura A, Moreau A, Verthier N, Sassolas A, Cadiot G, et al. Apolipoprotein B48 glycosylation in abetalipoproteinemia and Anderson's disease. Gastroenterology. 2001;121:1101-8 pubmed
    b>Abetalipoproteinemia and Anderson's disease are hereditary lipid malabsorption syndromes. In abetalipoproteinemia, lipoprotein assembly is defective because of mutations in the microsomal triglyceride transfer protein...