We assessed whether patients with familial isolated vitamin E deficiency could discriminate between natural (RRR-) and synthetic (SRR-) stereoisomers of alpha-tocopherol labeled with six (d6) or three (d3) deuterium atoms, respectively.
We assessed whether patients with familial isolated vitamin E deficiency could discriminate between natural (RRR-) and synthetic (SRR-) stereoisomers of alpha-tocopherol labeled with six (d6) or three (d3) deuterium atoms, respectively.
The finding of alpha TTP gene mutations in AVED patients substantiates the therapeutic role of vitamin E as a protective agent against neurological damage in this disease.
Ataxia with vitamin E deficiency (AVED) is an autosomal recessive disease characterized clinically by neurological symptoms with often striking resemblance to those of Friedreich ataxia.
This report concerns the characterization of the alpha-tocopherol transfer protein (alpha-TTP) gene in a Japanese family affected by ataxia with isolated vitamin E deficiency (AVED).
The alpha-tocopherol transfer protein (alpha-TTP) is a cytosolic liver protein that is presumed to function in the intracellular transport of alpha-tocopherol, the most biologically active form of vitamin E. We studied 4 unrelated patients with autosomal recessive Friedreich-like ataxia who had isolated vitamin E deficiency.
Ataxia with vitamin E deficiency (AVED), or familial isolated vitamin E deficiency, is a rare autosomal recessive neurodegenerative disease characterized clinically by symptoms with often striking resemblance to those of Friedreich ataxia.