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

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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.

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Abbreviations

ABL:

Abetalipoproteinemia

MTP:

microsomal triglyceride transfer protein

ALT:

alanine aminotransferase

VEP:

visual-evoked potentials

AEP:

auditory-evoked potentials

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Acknowledgments

We are grateful to Dr. K. Ohashi (Tokyo, Japan) for providing PCR primers and conditions and Dr. J. Drai for measurement of tocopherol in adipose tissue.

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Authors and Affiliations

  1. Fédération de Biochimie et Biologie Spécialisée, Hôpital E. HERRIOT, Hospices Civils de Lyon, Lyon, 69437, France

    Laurence Chardon

  2. UF Dyslipidémies-Cardiobiologie, CBPE, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, 69677, Lyon, France

    Agnès Sassolas

  3. Laboratoire de Biochimie, Centre Hospitalier de Chambéry, Chambéry, 73011, France

    Bernard Dingeon

  4. UF endocrinologie moléculaire et maladies rares, Centre de Biologie et de Pathologie Est, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, 69677, Lyon, France

    Laurence Michel-Calemard

  5. Service de Pédiatrie, Centre hospitalier de Chambéry, Chambéry, 73011, France

    Michel Bovier-Lapierre

  6. Université de Lyon, Lyon, 69003, France

    Philippe Moulin

  7. INSERM, U870, IFR62, Lyon, 69008, France

    Philippe Moulin

  8. INRA, UMR1235, Lyon, 69008, France

    Philippe Moulin

  9. INSA-Lyon, RMND, Villeurbanne, 69621, France

    Philippe Moulin

  10. Fédération d’Endocrinologie, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, 69677, Lyon, France

    Philippe Moulin

  11. Faculté de médecine Lyon Grange Blanche, Université Lyon 1, Lyon, 69008, France

    Alain Lachaux

  12. INSERM, U851, IFR128, Lyon, 69365, France

    Alain Lachaux

  13. Unité d’Hépatologie Gastro-entérologie et Nutrition Pédiatrique, Hôpital E Herriot, Hospices Civils de Lyon, Lyon, 69437, France

    Alain Lachaux

Authors
  1. Laurence Chardon
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  2. Agnès Sassolas
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  3. Bernard Dingeon
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  4. Laurence Michel-Calemard
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  5. Michel Bovier-Lapierre
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  6. Philippe Moulin
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  7. Alain Lachaux
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Corresponding author

Correspondence to Laurence Chardon.

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Chardon, L., Sassolas, A., Dingeon, B. et al. Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases. Eur J Pediatr 168, 983–989 (2009). https://doi.org/10.1007/s00431-008-0888-6

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  • DOI: https://doi.org/10.1007/s00431-008-0888-6

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