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Vitamin E deficiency due to chylomicron retention disease in Marinesco‐Sjögren syndrome
- Source :
- Annals of Neurology; February 2000, Vol. 47 Issue: 2 p260-264, 5p
- Publication Year :
- 2000
-
Abstract
- We report on 2 brothers (aged 19 and 12 years) with Marinesco‐Sjögren syndrome who also had very low serum vitamin E concentrations with an absence of postprandial chylomicrons. The molecular study ruled out ataxia with isolated vitamin E deficiency, abetalipoproteinemia, and hypobetalipoproteinemia. The electron microscopy of the intestinal mucosa was consistent with a chylomicron retention disease. We speculate that both chylomicron retention disease and Marinesco‐Sjögren syndrome are related to defects in a gene crucial for the assembly or secretion of the chylomicron particles, leading to very low serum levels of vitamin E. Ann Neurol 2000;47:260–264
Details
- Language :
- English
- ISSN :
- 03645134 and 15318249
- Volume :
- 47
- Issue :
- 2
- Database :
- Supplemental Index
- Journal :
- Annals of Neurology
- Publication Type :
- Periodical
- Accession number :
- ejs24997286
- Full Text :
- https://doi.org/10.1002/1531-8249(200002)47:2<260::AID-ANA21>3.0.CO;2-V