Abstract
A growing body of literature has begun to delineate the unique and potent biological properties of vitamin E involved in cardiovascular disease, cancer, chronic inflammation, and neurodegeneration. Vitamin E was initally proposed as a dietary factor essential in preventing embryonic mortality and soon after considered as lipid-soluble antioxidant that inhibits lipid peroxidation by scavenging reactive oxygen species. Recent mechanistic studies indicate that vitamin E possesses functions that are independent of its antioxidant ability and mainly modulate cell signal transduction and gene expression. Despite overt vitamin E deficiency is rare, most commonly it can be found in children with inherited abnormalities that prevent the absorption or maintenance of normal blood concentration of vitamin E. This review summarizes the genetic disorders associated with congenital vitamin E deficiency. In parallel, it provides a brief overview on the historical, metabolic, and functional aspects of vitamin E.
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Abbreviations
- ABL:
-
Abetalipoproteinemia
- AD:
-
Autosomal dominant
- apo:
-
Apolipoprotein
- AR:
-
Autosomal recessive
- AVED:
-
Ataxia with vitamin E deficiency
- CEHC:
-
Carboxyethyl hydroxychromanol
- CFTR:
-
Cystic fibrosis transmembrane conductance regulator
- CMRD:
-
Chylomicron retention disease
- COX:
-
Cyclooxygenase
- FFA:
-
Free fatty acids
- FHBL:
-
Familial hypobetalipoproteinemia
- HBL:
-
Hypobetalipoproteinemia
- HDL:
-
High-density lipoprotein
- LDL:
-
Low-density lipoprotein
- LDL-C:
-
Low-density lipoprotein-cholesterol
- MIM:
-
Mendelian Inheritance in Man
- MMPs:
-
Matrix metalloproteinases
- MTP:
-
Microsomal triglyceride transfer protein
- NADPH:
-
Nicotinamide adenine dinucleotide phosphate
- PKC:
-
Protein kinase C
- ROS:
-
Reactive oxygen species
- TTPA:
-
α-tocopherol transfer protein gene
- VLDL:
-
Very low-density lipoprotein
- α-TTP:
-
α-Tocopherol-transfer protein
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El Hadi, H., Vettor, R., Rossato, M. (2018). Congenital Vitamin E Deficiency. In: Preedy, V., Patel, V. (eds) Handbook of Famine, Starvation, and Nutrient Deprivation. Springer, Cham. https://doi.org/10.1007/978-3-319-40007-5_86-1
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DOI: https://doi.org/10.1007/978-3-319-40007-5_86-1
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