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01.08.2009 | Original Paper

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

verfasst von: Laurence Chardon, Agnès Sassolas, Bernard Dingeon, Laurence Michel-Calemard, Michel Bovier-Lapierre, Philippe Moulin, Alain Lachaux

Erschienen in: European Journal of Pediatrics | Ausgabe 8/2009

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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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Titel: Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases
verfasst von: Laurence Chardon
Agnès Sassolas
Bernard Dingeon
Laurence Michel-Calemard
Michel Bovier-Lapierre
Philippe Moulin
Alain Lachaux
Publikationsdatum: 01.08.2009
Verlag: Springer-Verlag
Erschienen in: European Journal of Pediatrics / Ausgabe 8/2009
Print ISSN: 0340-6199
Elektronische ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-008-0888-6

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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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