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Congenital Vitamin E Deficiency

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Handbook of Famine, Starvation, and Nutrient Deprivation

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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This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

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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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