Ataxia with vitamin E deficiency

Ataxia with vitamin E deficiency is a disorder that impairs the body's ability to use vitamin E obtained from the diet. Vitamin E is an antioxidant, which means that it protects cells in the body from the damaging effects of ...1

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Symptoms of Ataxia with vitamin E deficiency

Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms

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Diagnosis of Ataxia with vitamin E deficiency

Diagnosis: AVED may be suspected in individuals who have the following findings at the beginning of puberty:[2]

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Genetics of Ataxia with vitamin E deficiency

Genetic Changes: Mutations in the TTPA gene cause ataxia with vitamin E deficiency . The TTPA gene provides instructions for making the alpha-tocopherol transfer protein (alpha-TTP), which is found in the liver and brain. This protein controls distribution of ...2

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Treatments: Ataxia with vitamin E deficiency

Treatment: Treatment for AVED requires lifelong high dose supplementation of vitamin E. When treated early, some symptoms, such as ataxia and intellectual decline, can be reversed. In older patients, treatment may slow disease progression, but some symptoms remain.[2, 3] ...3

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Causes

See also causal information:

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Names and Terminology

Other Names for This Condition

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ ataxia-with-vitamin-e-deficiency
  2. ibid.
  3. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 8595/ ataxia-with-vitamin-e-deficiency

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