Vitamin E Familial Isolated, Deficiency

Below you will find more information about Vitamin E Familial Isolated, Deficiency from Medigest. If you believe that you are suffering from any of the symptoms of Vitamin E Familial Isolated, Deficiency it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Vitamin E Familial Isolated, Deficiency and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Vitamin E Familial Isolated, Deficiency comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.


Familial Isolated Vitamin E Deficiency which is synonymous to Ataxia with Vitamin E Deficiency or to isolated Vitamin E Deficiency is a rare and autosomal recessive neurodegenrative disease. It is an inherited neurodegenerative disorder that is often characterized by the inability to coordinate voluntary movements and disease of the peripheral nervous system. It is a progressive disorder.


Examination of dietary and medical history suggest the deficiency. Usually a medical confirmation of the level of serum alpha-tocopherol is also used to detect the deficiency (Sprinhouse (2005) Professional Guide to Disease, 8th Edition, Lippincott Williams and Wilkins).


It is said that the only treatment for this kind of medical condition is through replacement of vitamin E with a water0soluble supplement either oral or parenteral. Diet which includes foods with high vitamin E like vegetable oils , whole grains, dark green leafy vegetables also said to help in treating the deficiency.

Symptoms and Signs

Symptoms often vary from one case to another. However, in addition to the nurological symptoms , eye abnormalities, cardiomyopathy and abnormal curving of the spine or the scoliosis are observed. Its prevalent features are similar to the Friedrieich ataxia


It is said to be caused by mutations in the gene for a-tocopherol transfer protein. It may also be an inherited condition or a result of a poor diet. In infants, it usually results from consuming formulas high in polyunsaturated fatty acids that are fortified with iron but not vitamin E.

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