Ataxia with vitamin E deficiency AVED

Disorders associated with vitamin E deficiency (ataxia with vitamin E deficiency (AVED), chronic cholestatic liver disease, cystic fibrosis, chronic pancreatitis, short bowel syndrome, progressive systemic sclerosis,... 

Vitamin E deficiency is seen rarely in humans. However, there may be a risk of vitamin E deficiency in premature infants because the placenta does not transfer a-tocopherol to the fetus in adequate amounts. When it occurs in older children and adults, it is usually a result of lipoprotein deficiencies or a lipid malabsorption syndrome. These include patients with abetalipoproteinemia or homozygous hypobeta-lipoproteinemia, those with cholestatic disease, and patients receiving total parenteral nutrition. There is also an extremely rare disorder in which primary vitamin E deficiency occurs in the absence of lipid malabsorption. This disorder is a rare autosomal recessive neurodegenerative disease caused by mutations in the gene for a-TTP. This disorder is known as ataxia with vitamin E deficiency (AVED). Patients with AVED have extraordinary low plasma vitamin E concentrations (<5pgml ) and have an onset between 4 and 18 years, with progressive development of peripheral neuropathy,... 

Patients who lack the hepatic tocopherol transfer protein (Section 4.2) and suffer from what has been called AVED (ataxia with vitamin E deficiency) are unable to export a-tocopherol from the liver in VLDL. 

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