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GTR Home > Conditions/Phenotypes > Familial isolated deficiency of vitamin E

Familial isolated deficiency of vitamin E

Synonyms
Ataxia with isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Friedreich-like ataxia with selective vitamin E deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Ataxia with Vitamin E Deficiency
Untreated ataxia with vitamin E deficiency (AVED) generally manifests between ages five and 15 years. The first manifestations include progressive ataxia, clumsiness of the hands, loss of proprioception, and areflexia. Other features often observed are dysdiadochokinesia, dysarthria, positive Romberg sign, head titubation, decreased visual acuity, and positive Babinski sign. Although age of onset and disease course are more uniform within a given family, disease manifestations and their severity can vary even among sibs. When lifelong high-dose vitamin E supplementation is initiated in presymptomatic individuals, manifestations of AVED do not develop.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Markus Schuelke
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Available tests

67 tests are in the database for this condition.

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Clinical tests (67 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ATTP, AVED, TTP1, alphaTTP, TTPA
    Summary: alpha tocopherol transfer protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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