European Journal of Pediatrics

, Volume 168, Issue 8, pp 983–989

Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases

  • Laurence Chardon
  • Agnès Sassolas
  • Bernard Dingeon
  • Laurence Michel-Calemard
  • Michel Bovier-Lapierre
  • Philippe Moulin
  • Alain Lachaux
Original Paper

DOI: 10.1007/s00431-008-0888-6

Cite this article as:
Chardon, L., Sassolas, A., Dingeon, B. et al. Eur J Pediatr (2009) 168: 983. doi:10.1007/s00431-008-0888-6

Abstract

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 and triglyceride levels and fat-soluble vitamins deficiencies. We report two novel mutations (c.59del17 and c.582C>A) and the long-term follow-up of four ABL subjects treated with vitamin E. The good outcome of the early-treated patients contrasts with severe ataxia and retinopathy observed in the patient with delayed treatment. In conclusion, early diagnosis and early management are essential to prevent the manifestations following the fat-soluble vitamin deficiencies.

Keywords

Abetalipoproteinemia Vitamin E Microsomal triglyceride transfer protein 

Abbreviations

ABL

Abetalipoproteinemia

MTP

microsomal triglyceride transfer protein

ALT

alanine aminotransferase

VEP

visual-evoked potentials

AEP

auditory-evoked potentials

Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Laurence Chardon
    • 1
  • Agnès Sassolas
    • 2
  • Bernard Dingeon
    • 3
  • Laurence Michel-Calemard
    • 4
  • Michel Bovier-Lapierre
    • 5
  • Philippe Moulin
    • 6
    • 7
    • 8
    • 9
    • 10
  • Alain Lachaux
    • 11
    • 12
    • 13
  1. 1.Fédération de Biochimie et Biologie Spécialisée, Hôpital E. HERRIOTHospices Civils de LyonLyonFrance
  2. 2.UF Dyslipidémies-Cardiobiologie, CBPE, Groupement Hospitalier EstHospices Civils de LyonLyonFrance
  3. 3.Laboratoire de BiochimieCentre Hospitalier de ChambéryChambéryFrance
  4. 4.UF endocrinologie moléculaire et maladies rares, Centre de Biologie et de Pathologie Est, Groupement Hospitalier EstHospices Civils de LyonLyonFrance
  5. 5.Service de PédiatrieCentre hospitalier de ChambéryChambéryFrance
  6. 6.Université de LyonLyonFrance
  7. 7.INSERM, U870, IFR62LyonFrance
  8. 8.INRA, UMR1235LyonFrance
  9. 9.INSA-Lyon, RMNDVilleurbanneFrance
  10. 10.Fédération d’Endocrinologie, Groupement Hospitalier EstHospices Civils de LyonLyonFrance
  11. 11.Faculté de médecine Lyon Grange BlancheUniversité Lyon 1LyonFrance
  12. 12.INSERM, U851, IFR128LyonFrance
  13. 13.Unité d’Hépatologie Gastro-entérologie et Nutrition Pédiatrique, Hôpital E HerriotHospices Civils de LyonLyonFrance

Personalised recommendations