Signs and symptoms of Vitamin E deficiency

Vitamin E deficiency is extremely rare in humans as it is unlikely caused by a diet consisting of low vitamin E. Vitamin E deficiency occurs only as a result of genetic abnormalities in α–tocopherol transfer protein, as a result of various fat malabsorption syndromes, or as a result of protein-energy malnutrition.

Vitamin E deficiency signs include ataxia, retinopathy, peripheral neuropathy, skeletal myopathy, and immune response impairment. Crohn’s disease and cystic fibrosis patients require water-soluble vitamin E due to their inability to secrete bile.

The primary human vitamin E deficiency symptom is a peripheral neuropathy characterized by the degeneration of the large-caliber axons in the sensory neurons.

Vitamin E deficiency also causes ataxia and vitamin E deficiency (AVED), an inherited disorder, where the liver’s α-tocopherol transfer protein (α-TTP) is defective or absent. The lack of functional a-TTP results in the rapid depletion of plasma a-tocopherol, thereby demonstrating that a-TTP is needed to maintain plasma a-tocopherol concentrations. AVED patients suffer from nerve damage and lose the ability to walk.

As the vitamin E deficiency continues over time, the neurologic defects become so severe such that they that result in ataxia. Other symptoms include increased erythrocyte fragility, and increased ethane and pentane production.
Signs and symptoms of Vitamin E deficiency