Understanding What is Vitamin E Deficiency Disease Called? The Role of Ataxia with Vitamin E Deficiency (AVED)

October 30, 2025 •

4 min read

While severe dietary vitamin E deficiency is extremely rare in healthy individuals, the most distinct and severe form is a hereditary neurodegenerative disorder. This condition is officially named Ataxia with Vitamin E Deficiency (AVED), which answers the question: What is vitamin E deficiency disease called?.

Quick Summary

This article explains the rare genetic disorder Ataxia with Vitamin E Deficiency (AVED) and other causes of low vitamin E, such as malabsorption issues. It details the serious neurological, muscular, and vision-related symptoms associated with deficiency, alongside the diagnostic process and treatment options.

Key Points

Specific Disease Name: The rare genetic disorder caused by a severe vitamin E deficiency is called Ataxia with Vitamin E Deficiency (AVED).
Genetic Cause (AVED): AVED is caused by a mutation in the TTPA gene, which prevents the liver from properly distributing vitamin E to the body's tissues.
Primary Causes: In developed countries, vitamin E deficiency is most commonly caused by underlying fat malabsorption disorders, such as cystic fibrosis, Crohn's disease, and liver problems.
Main Symptoms: The primary symptoms are neurological, including loss of coordination (ataxia), muscle weakness, impaired reflexes, and vision problems.
High-Risk Groups: Premature, low-birth-weight infants are at a higher risk of deficiency due to low vitamin E reserves at birth.
Effective Treatment: Treatment for deficiency, especially AVED, involves high-dose oral vitamin E supplementation, which can prevent or halt the progression of neurological damage.
Food Sources: Most healthy adults get sufficient vitamin E from food sources like vegetable oils, nuts, seeds, and leafy greens.

What is Vitamin E and Its Vital Function?

Vitamin E is the collective name for a group of fat-soluble compounds that act as powerful antioxidants in the body. Its primary role is to protect cells from the damaging effects of unstable molecules called free radicals, which are a byproduct of normal metabolic processes and environmental exposure. Nerve cells, which have a high fatty acid content, are particularly vulnerable to oxidative damage when vitamin E levels are insufficient. This protective function is critical for maintaining the health of the nervous, immune, and circulatory systems. The body preferentially uses and stores alpha-tocopherol, one of the eight forms of vitamin E, and requires dietary fat for proper absorption.

Understanding Ataxia with Vitamin E Deficiency (AVED)

Ataxia with Vitamin E Deficiency (AVED) is a rare, inherited genetic disorder and the specific disease associated with severe vitamin E deficiency. It is caused by mutations in the TTPA gene, which provides instructions for making the alpha-tocopherol transfer protein (αTTP). This protein is essential for distributing vitamin E throughout the body from the liver. A defective or absent αTTP results in the body's inability to retain and use dietary vitamin E effectively, leading to extremely low plasma vitamin E concentrations.

AVED is a progressive neurodegenerative disease with symptoms that often appear between the ages of 5 and 15 and worsen over time. The progression is similar to that of Friedreich's ataxia, making genetic testing for AVED crucial in diagnosis. Early treatment with high-dose vitamin E supplementation can halt the progression of the disease and may reverse some of the neurological damage.

The Many Causes of Vitamin E Deficiency

While dietary inadequacy is a factor in countries with food insecurity, it is rarely the cause in healthy adults in developed nations due to vitamin E storage in fat tissue. The most common causes of vitamin E deficiency are underlying conditions that impair the absorption of dietary fat.

Conditions Affecting Fat Absorption

Cystic Fibrosis: Affects the pancreas, which impairs the digestion and absorption of fats and fat-soluble vitamins.
Crohn's Disease: Chronic inflammation of the digestive tract interferes with nutrient absorption.
Chronic Pancreatitis: Alters the pancreas's role in fat digestion.
Cholestatic Liver Disease: Reduces bile secretion from the liver, which is necessary for fat and fat-soluble vitamin absorption.
Bariatric Surgery: Gastric bypass and other forms of weight-loss surgery can lead to malabsorption.
Abetalipoproteinemia: A rare inherited disorder of fat metabolism that results in poor absorption of dietary fat and vitamin E.

Vulnerable Populations

Premature Infants: They are at high risk due to low vitamin E reserves at birth, as limited amounts cross the placenta. Their immature digestive systems also contribute to poor absorption.

Recognizing the Symptoms of Deficiency

Symptoms of vitamin E deficiency primarily affect the nervous system and can progress slowly over time. These symptoms are caused by oxidative damage to nerve fibers.

Neurological and Neuromuscular Symptoms

Ataxia: Loss of coordination and balance, leading to an unsteady, uncoordinated walking gait.
Peripheral Neuropathy: Numbness and tingling sensations caused by damage to nerve fibers outside of the brain and spinal cord.
Muscle Weakness: Oxidative stress contributes to muscle weakness (myopathy).
Areflexia: Loss of deep tendon reflexes, which can be an early sign.
Impaired Proprioception: Difficulty sensing the position of one's body parts in space.

Other Symptoms

Vision Problems: Deterioration of the retina and nerve damage can weaken light receptors, potentially leading to vision loss over time, including retinitis pigmentosa.
Impaired Immune Response: Lack of vitamin E can inhibit immune cell function.
Hemolytic Anemia: A form of anemia where red blood cells are ruptured by oxidative damage. This is particularly a risk for premature infants with the deficiency.

Diagnosis and Treatment Options

Diagnosing vitamin E deficiency involves a combination of a physical examination, review of symptoms, and blood tests. The most direct method is measuring serum alpha-tocopherol levels. In patients with elevated blood lipid levels, the ratio of serum alpha-tocopherol to lipids is a more accurate indicator of vitamin E status. Genetic testing is used to confirm a diagnosis of AVED.

Treatment for Genetic vs. Acquired Deficiency


Feature	Ataxia with Vitamin E Deficiency (AVED)	Malabsorption-Related Deficiency	Premature Infants
Cause	Genetic mutation (TTPA gene)	Underlying disorder affecting fat absorption	Low vitamin E reserves and immature digestion
Treatment Focus	Lifelong, high-dose oral vitamin E supplementation	Treating the underlying malabsorption issue while supplementing	Supplemental vitamin E to prevent complications like anemia
Prognosis	Early supplementation can halt progression; damage can be irreversible	Prognosis depends on the underlying condition and effective supplementation	Improves with age and adequate intake from breast milk or formula

Dietary Sources and Supplements

For deficiencies caused by malabsorption, supplementing with high doses of vitamin E is often necessary. Oral supplements, sometimes in water-soluble forms, are used to overcome absorption issues. However, most healthy people can meet their vitamin E needs through diet alone. Rich food sources include:

Vegetable Oils: Wheat germ, sunflower, and safflower oils.
Nuts and Seeds: Sunflower seeds, almonds, and hazelnuts.
Leafy Greens: Spinach, beet greens, and Swiss chard.
Other Foods: Avocados, asparagus, and fortified cereals.

Conclusion

While a severe deficiency caused solely by diet is rare, it is important to recognize the underlying conditions, particularly genetic and fat malabsorption disorders, that can lead to low vitamin E levels. Ataxia with Vitamin E Deficiency (AVED) is the specific hereditary disease name, leading to progressive neurological damage. Prompt diagnosis and targeted supplementation are critical for managing symptoms and preventing irreversible harm. Addressing any underlying malabsorption issue is also key to effective treatment. Understanding the causes and symptoms ensures that those at risk receive the medical attention they need to maintain their health.

Visit the NIH Office of Dietary Supplements for more details on Vitamin E.

Frequently Asked Questions

The specific genetic disease caused by severe vitamin E deficiency is known as Ataxia with Vitamin E Deficiency, or AVED.

AVED is caused by mutations in the TTPA gene, which results in the body's inability to properly utilize and distribute vitamin E, leading to a severe deficiency.

Common symptoms include neurological issues like loss of coordination (ataxia), muscle weakness, loss of reflexes, numbness, and tingling. Vision problems and a weakened immune system can also occur.

While a very low-fat diet could potentially lead to a deficiency, in healthy adults it is rare. Vitamin E deficiency is most often a result of underlying medical conditions that affect fat and nutrient absorption.

People with fat malabsorption disorders such as cystic fibrosis, Crohn's disease, or liver disease are at risk. Premature, low-birth-weight infants are also susceptible.

Treatment involves vitamin E supplementation, often in high doses, and addressing the underlying medical cause. For conditions like AVED, lifelong supplementation is required.

Early treatment with vitamin E supplementation can halt the progression of neurological damage, and in some cases, symptoms may improve. However, if damage is already severe or irreversible, some deficits may remain.

The best food sources include nuts (almonds, hazelnuts), seeds (sunflower seeds), vegetable oils (sunflower, wheat germ), and leafy green vegetables (spinach, beet greens).