Understanding Lab Tests for Ataxia with Vitamin E Deficiency (AVED)
Written by Private MD Labs Medical Writing Team • Last Updated: September 8, 2025
Ataxia with Vitamin E Deficiency (AVED) is a rare inherited disorder caused by mutations in the TTPA gene, which affects the body's ability to properly utilize vitamin E. This condition leads to progressive neurological symptoms including nerve damage, muscle weakness, and problems with balance and coordination.
Recommended Test
Vitamin E (Tocopherol)
This test directly measures vitamin E (tocopherol) levels in the blood, which is essential for diagnosing AVED. Individuals with this rare inherited disorder typically show severely low vitamin E levels due to their body's inability to properly absorb and utilize this vitamin, despite adequate dietary intake. Low vitamin E levels in the presence of neurological symptoms like ataxia can help confirm the diagnosis.
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Diagnosing AVED Through Blood Testing
While genetic testing can confirm the underlying mutation, measuring vitamin E levels in the blood is a crucial diagnostic step. Individuals with AVED typically show significantly reduced vitamin E (tocopherol) levels despite normal dietary intake, as their bodies cannot effectively absorb or utilize this essential nutrient.
Why Vitamin E Testing is Critical
Early detection of vitamin E deficiency in AVED is crucial because high-dose vitamin E supplementation can help slow or prevent the progression of neurological symptoms. Without proper diagnosis and treatment, individuals may experience worsening ataxia, peripheral neuropathy, and other debilitating complications.
Important Considerations
The information here is for educational purposes only and is not a substitute for professional medical advice. Always consult with a healthcare provider for diagnosis and treatment. AVED requires specialized neurological evaluation and genetic counseling in addition to laboratory testing.
