Familial isolated vitamin E deficiency
Familial isolated vitamin E deficiency is a rare genetic disorder characterized by a deficiency of vitamin E due to impaired absorption and transport by the body.
Pronunciation
Familial isolated vitamin E deficiency is pronounced as fa-mil-ee-al eye-so-lay-ted vi-ta-min E de-fi-ciency.
Etymology
The term "Familial isolated vitamin E deficiency" is derived from the following roots:
- Familial: From the Latin word 'familia' meaning family, indicating that the condition is inherited.
- Isolated: From the Latin word 'isolatus' meaning set apart, indicating that the deficiency is not associated with other conditions.
- Vitamin E: A group of eight fat-soluble compounds that include four tocopherols and four tocotrienols.
- Deficiency: From the Latin word 'deficientia' meaning lacking, indicating a shortage or lack of something.
Definition
Familial isolated vitamin E deficiency is a genetic disorder that impairs the body's ability to absorb and transport vitamin E, leading to a deficiency of this essential nutrient. This condition is caused by mutations in the tocopherol (alpha) transfer protein gene (TTPA).
Symptoms
The symptoms of Familial isolated vitamin E deficiency can vary but often include neuromuscular problems such as ataxia (poor muscle coordination), peripheral neuropathy (damage to the peripheral nerves), and retinopathy (damage to the retina of the eye).
Related Terms
See Also
External links
- Medical encyclopedia article on Familial isolated vitamin E deficiency
- Wikipedia's article - Familial isolated vitamin E deficiency
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