Abetalipoproteinemia From Previously Unreported Gene Mutations
Authors: Xavier-Philippe Aers, Bart P. Leroy, Joep C. Defesche, Samyah Shadid
Journal: Annals of Internal Medicine (2018)

Letters5 February 2019Abetalipoproteinemia From Previously Unreported Gene MutationsCorrection(s) for this article:CorrectionsMay 2019Correction: Error in Letters in 5 February 2019FREEXavier-Philippe Aers, MD*, Bart P. Leroy, MD, PhD*, Joep C. Defesche, PhD, and Samyah Shadid, MD, PhDXavier-Philippe Aers, MD*Ghent University Hospital and Ghent University, Ghent, Belgium (X.A., B.P.L., S.S.)Search for more papers by this author, Bart P. Leroy, MD, PhD*Ghent University Hospital and Ghent University, Ghent, Belgium (X.A., B.P.L., S.S.)Search for more papers by this author, Joep C. Defesche, PhDAcademic Medical Center, University of Amsterdam, Amsterdam, the Netherlands (J.C.D.)Search for more papers by this author, and Samyah Shadid, MD, PhDGhent University Hospital and Ghent University, Ghent, Belgium (X.A., B.P.L., S.S.)Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/L18-0358 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail Background: Abetalipoproteinemia is a rare, autosomal recessive disorder that requires mutations in both alleles of the gene for microsomal triglyceride transfer protein (MTTP). The mutations cause improper packaging and secretion of lipoprotein particles that contain apolipoprotein B from enterocytes and hepatocytes. These abnormalities lead to intracellular lipid retention and reductions in plasma levels of chylomicrons and very-low-density lipoprotein. Lipids and lipid-soluble vitamins are therefore malabsorbed, which causes retinal degeneration and eventual blindness followed by neuropathy and coagulopathy that are often severe and debilitating. Clinical diagnosis of abetalipoproteinemia is difficult because of its similarity to 2 related conditions, hypobetalipoproteinemia and chylomicron ...References1. Burnett JR, Bell DA, Hooper AJ, Hegele RA. Clinical utility gene card for: abetalipoproteinaemia—update 2014. Eur J Hum Genet. 2015;23. [PMID: 25335492] doi:10.1038/ejhg.2014.224 CrossrefMedlineGoogle Scholar2. Lee J, Hegele RA. Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. J Inherit Metab Dis. 2014;37:333-9. [PMID: 24288038] doi:10.1007/s10545-013-9665-4 CrossrefMedlineGoogle Scholar3. Paquette M, Dufour R, Hegele RA, Baass A. A tale of 2 cousins: an atypical and a typical case of abetalipoproteinemia. J Clin Lipidol. 2016;10:1030-4. [PMID: 27578136] doi:10.1016/j.jacl.2016.01.003 CrossrefMedlineGoogle Scholar4. Peretti N, Sassolas A, Roy CC, Deslandres C, Charcosset M, Castagnetti J, et al; Department of Nutrition-Hepatogastroenterology, Hôpital Femme Mère Enfant, Bron, Université Lyon 1. Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers. Orphanet J Rare Dis. 2010;5:24. [PMID: 20920215] doi:10.1186/1750-1172-5-24 CrossrefMedlineGoogle Scholar5. Desomer L, De Vos M, De Looze D. Fat accumulation in enterocytes: a key to the diagnosis of abetalipoproteinemia or homozygous hypobetalipoproteinemia. Endoscopy. 2015;47 Suppl 1 UCTN:E223-4. [PMID: 26062159] doi:10.1055/s-0034-1391832 CrossrefMedlineGoogle Scholar Author, Article, and Disclosure InformationAffiliations: Ghent University Hospital and Ghent University, Ghent, Belgium (X.A., B.P.L., S.S.)Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands (J.C.D.)Disclosures: Authors have disclosed no conflicts of interest. Forms can be viewed at www.acponline.org/authors/icmje/ConflictOfInterestForms.do?msNum=L18-0358.This article was published at Annals.org on 6 November 2018.* Drs. Aers and Leroy contributed equally to this work. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetailsSee AlsoCorrection: Error in Letters in 5 February 2019 Metrics Cited byRetinitis Pigmentosa and Allied DiseasesRetinitis Pigmentosa and Allied DiseasesCurrent Diagnosis and Management of AbetalipoproteinemiaA novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported casesRetinitis Pigmentosa and Allied DiseasesCorrection: Error in Letters in 5 February 2019 5 February 2019Volume 170, Issue 3Page: 211-213KeywordsAllelesApolipoproteinsDNALipoproteinsMutationProteinsResearch laboratoriesVery low density lipoproteinVitamin AVitamins ePublished: 6 November 2018 Issue Published: 5 February 2019 Copyright & PermissionsCopyright © 2018 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...