Ataxia with Vitamin E Deficiency is the Main Disease Caused by Low Vitamin E

December 22, 2025 •

4 min read

While dietary deficiency of vitamin E is rare in developed countries, the most serious disease directly linked to its deficiency is a progressive neurodegenerative disorder called Ataxia with Vitamin E Deficiency (AVED). This inherited condition impairs the body's ability to utilize vitamin E, leading to severe neurological damage over time.

Quick Summary

The most significant disease resulting from severe vitamin E deficiency is Ataxia with Vitamin E Deficiency (AVED), a rare genetic disorder affecting the nervous system. It causes progressive loss of muscle coordination and other neurological issues due to the body's inability to process dietary vitamin E properly.

Key Points

Main Disease (AVED): Ataxia with Vitamin E Deficiency (AVED) is the most severe disease linked to low vitamin E, caused by a rare genetic mutation.
Neurological Impact: AVED leads to progressive neurological symptoms like loss of coordination (ataxia), muscle weakness, speech difficulties, and vision problems.
Oxidative Damage: Vitamin E's antioxidant function is crucial for nerve cells; its deficiency leaves them vulnerable to damaging free radicals.
Causes Vary: Deficiency can be inherited (AVED) or acquired due to fat malabsorption from conditions like cystic fibrosis or liver disease.
Treatment is Crucial: High-dose vitamin E supplementation can stop the progression of neurological symptoms, especially when started early.
Management is Long-Term: Treatment for AVED is typically a lifelong commitment to manage the genetic transport defect.
Dietary Role: While diet is rarely the sole cause of severe deficiency in developed countries, eating foods rich in vitamin E is key for prevention.

Understanding the Main Disease of Vitamin E Deficiency

Although dietary insufficiency of vitamin E is uncommon in the general population, particularly in areas with high food security, the main and most severe disease associated with low vitamin E levels is Ataxia with Vitamin E Deficiency (AVED). This is a rare, inherited neurological condition, distinct from deficiencies caused by poor diet, where the body cannot effectively transport or use the vitamin E it absorbs. The resulting lack of vitamin E, a powerful antioxidant, leads to significant damage to nerve cells.

The Role of Vitamin E and Oxidative Stress

Vitamin E is a vital fat-soluble antioxidant that protects cells from damage caused by unstable molecules called free radicals. These free radicals are natural by-products of normal cellular processes, but an excess of them, a condition known as oxidative stress, can be harmful. The nervous system, with its high fat content, is particularly susceptible to oxidative damage. In the absence of sufficient vitamin E, nerve cells are left vulnerable, leading to their degeneration and the characteristic symptoms of AVED.

Causes of Vitamin E Deficiency and AVED

While most cases of low vitamin E levels stem from underlying conditions rather than diet, it is important to distinguish between them.

Hereditary (AVED):

Caused by a mutation in the TTPA gene.
This gene provides instructions for making the alpha-tocopherol transfer protein ($\alpha$TTP), which is crucial for distributing vitamin E from the liver to other tissues.
A defective $\alpha$TTP protein prevents the body from retaining and utilizing the vitamin effectively, leading to critically low levels in the blood and tissues despite adequate dietary intake.

Acquired (Malabsorption):

Many conditions that disrupt fat absorption can also prevent the body from absorbing vitamin E, a fat-soluble vitamin.
Examples include cystic fibrosis, chronic cholestasis (a liver disease affecting bile flow), Crohn's disease, and short-bowel syndrome.
Abetalipoproteinemia, a rare inherited metabolic disorder, also results in severe fat and vitamin E malabsorption.

Progression and Symptoms of AVED

AVED is a progressive disorder, and its neurological symptoms typically manifest in childhood or early adolescence, between the ages of 5 and 15. The symptoms worsen over time, mirroring those of other ataxias, such as Friedreich's ataxia.

Initial signs often include:

Hyporeflexia: The loss of deep tendon reflexes, particularly in the legs.
Ataxic gait: Difficulty with balance and coordination, leading to an unsteady or clumsy walking pattern.
Peripheral neuropathy: Numbness, tingling, or a loss of sensation in the extremities, a result of damage to peripheral nerve fibers.

As the condition progresses, more severe symptoms emerge:

Dysarthria: Difficulty with speech and verbal articulation.
Ophthalmoplegia and Retinopathy: Eye movement abnormalities and vision deterioration, potentially leading to blindness.
Muscle Weakness and Myopathy: Generalized muscle weakness and skeletal muscle damage.
Cardiomyopathy: Disorders affecting the heart muscles can develop in advanced stages.

Comparison of Causes: Genetic vs. Malabsorption


Feature	Ataxia with Vitamin E Deficiency (AVED)	Malabsorption-Related Deficiency
Cause	Genetic mutation in the TTPA gene, affecting vitamin E distribution.	Underlying health conditions preventing fat and vitamin E absorption.
Heredity	Inherited in an autosomal recessive pattern.	Not inherited, but the underlying condition (e.g., cystic fibrosis) may be genetic.
Onset	Typically appears in childhood or early adolescence (5-15 years).	Varies depending on the underlying condition, can occur at any age.
Vitamin E levels	Critically low serum vitamin E levels, even with adequate dietary intake.	Low serum vitamin E levels due to impaired absorption.
Treatment	High-dose oral vitamin E supplements are necessary to counteract the transport defect.	Treatment focuses on addressing the underlying malabsorption issue and providing supplementation.

Treatment and Outlook

For individuals with AVED, early diagnosis and treatment are crucial to manage the progression of the disease and prevent permanent neurological damage. The primary treatment involves taking very high doses of oral vitamin E supplements to overcome the defective protein transport system. While supplementation can halt the progression of symptoms, reversing existing neurological damage is often difficult. Therefore, consistent, long-term treatment is vital.

For those with vitamin E deficiency due to malabsorption disorders, treatment includes both addressing the root cause of malabsorption and supplementing with oral vitamin E. In some severe cases of malabsorption, intramuscular injections may be required. A diet rich in vitamin E, including vegetable oils, nuts, and leafy greens, is also recommended.

Conclusion

While a deficiency of vitamin E can lead to various issues, the most prominent and severe disease directly resulting from this deficiency is the rare genetic disorder, Ataxia with Vitamin E Deficiency (AVED). This condition, caused by a gene mutation affecting vitamin E transport, leads to progressive neurological impairment. Less severe deficiencies can result from fat malabsorption issues. In all cases, early diagnosis and consistent supplementation are essential to manage symptoms and prevent further damage. Maintaining a healthy diet rich in vitamin E-containing foods is the best preventative measure for the general population.

Can Vitamin E Supplements Help?

Vitamin E supplements can be highly effective in treating deficiencies, especially in cases of inherited conditions like AVED and malabsorption disorders. However, supplementation should always be managed under medical supervision. The dosages required for AVED can be very high, and long-term use of very high-dose vitamin E supplements can potentially increase the risk of bleeding in some individuals, particularly those also taking blood-thinning medication. A healthcare provider will determine the appropriate dosage and treatment plan based on the underlying cause and severity of the deficiency.

Frequently Asked Questions

The primary disease associated with a severe and prolonged vitamin E deficiency is Ataxia with Vitamin E Deficiency (AVED), a rare, progressive neurological disorder.

Early signs of AVED often include loss of deep tendon reflexes (hyporeflexia), an unsteady gait (ataxia), and reduced sensation in the limbs.

AVED is a genetic disorder caused by a mutation that prevents the body from properly utilizing vitamin E, even if enough is consumed. A normal deficiency is usually caused by an underlying fat malabsorption disorder or, less commonly, inadequate dietary intake.

High-dose vitamin E supplements can effectively halt the progression of AVED and prevent further neurological damage, but they often cannot reverse damage that has already occurred.

Without treatment, AVED will progress and can lead to more severe neurological problems, including speech difficulties (dysarthria), severe muscle weakness, vision loss, and heart problems.

The neurological damage is caused by increased oxidative stress. Vitamin E acts as an antioxidant protecting nerve cells from damage by free radicals, and without it, these cells degenerate.

Yes, premature infants are at a higher risk of vitamin E deficiency due to lower vitamin stores at birth and an immature digestive system that can interfere with absorption.