Familial isolated vitamin E deficiency

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Familial isolated vitamin E deficiency
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Synonyms	AVED, Ataxia with isolated vitamin E deficiency
Pronounce	N/A
Specialty	N/A
Symptoms	Ataxia, Peripheral neuropathy, Retinitis pigmentosa, Dysarthria, Areflexia
Complications	Cardiomyopathy, Scoliosis
Onset	Childhood or adolescence
Duration	Lifelong
Types
Causes	Mutations in the TTPA gene
Risks
Diagnosis	Genetic testing, Blood test for vitamin E levels
Differential diagnosis	Friedreich's ataxia, Spinocerebellar ataxia
Prevention
Treatment	Vitamin E supplementation
Medication
Prognosis	Variable, depends on early diagnosis and treatment
Frequency	Rare
Deaths

Familial isolated vitamin E deficiency is a rare genetic disorder characterized by a deficiency of vitamin E, leading to neurological complications. This condition is caused by mutations in the TTPA gene, which provides instructions for making a protein that is necessary for the body to use vitamin E.

Causes

Familial isolated vitamin E deficiency is caused by mutations in the TTPA gene. This gene provides instructions for making a protein that is necessary for the body to use vitamin E. The mutations in the TTPA gene lead to a shortage (deficiency) of this protein, which impairs the body's ability to use vitamin E and leads to its deficiency.

Symptoms

The symptoms of familial isolated vitamin E deficiency can vary but often include poor coordination (ataxia), difficulty walking, and a loss of sensation in the arms and legs (peripheral neuropathy). Some affected individuals also develop problems with speech and swallowing.

Diagnosis

Diagnosis of familial isolated vitamin E deficiency is based on the clinical symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests can include blood tests to measure the level of vitamin E, genetic testing to identify mutations in the TTPA gene, and nerve conduction studies to evaluate the function of the peripheral nerves.

Treatment

Treatment of familial isolated vitamin E deficiency involves high doses of vitamin E to replenish the body's stores. This treatment can prevent the progression of the disorder and may improve some symptoms.

Prognosis

The prognosis for individuals with familial isolated vitamin E deficiency varies. Some individuals may experience significant disability due to neurological complications, while others may have mild symptoms. Early diagnosis and treatment can improve the prognosis.

See also

• Vitamin E
• TTPA
• Ataxia
• Peripheral neuropathy

References

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