Genetic Abnormalities in α-TPPa Gene

Histological/Biochemical Features

Found no mutations or polymorphisms in the α-TTP gene

Low serum vitamin E concentration: 0.05–1.18 µmol/L (0.02–0.51 µg/mL) (normal: 12–46 µmol/L [5–20 µg/mL])

Found no mutations in the frataxin gene

Low serum vitamin E concentration:

2.8 and 5.3 µmol/L (1.2 and 2.3 µg/mL)

(normal: 12–37 µmol/L [5–16 µg/mL])

Slightly low sensory action potentials

Homozygous for 513insTT mutation

Low serum vitamin E concentration:

<5 µmol/L (2 µg/mL)

(normal: 10–42 µmol/L [4–18 µg/mL])

c ADP = adenosine diphosphate.

d O = oxygen.

e TBARS = thiobarbituric acid reactive substances.

f This was the only report of any cardiomyopathy.

ethyl)-6-hydroxychroman (α-CEHC) were excreted in the urine when a plasma threshold of 30 µmol/L (1,290 µg/dL) of α-tocopherol was exceeded. However, the α-CEHC metabolite represents only a small fraction of the α-tocopherol consumed daily, and there are few data concerning its formation. Therefore, α-CEHC excretion has not been used as a basis for assessing the α-tocopherol requirement.

Vitamin E Biokinetics

Vitamin E kinetics, metabolism, and pool size determinations in humans have been limited. Therefore, insufficient data exist for

The National Academies of Sciences, Engineering, and Medicine
500 Fifth St. N.W. | Washington, D.C. 20001

Copyright © National Academy of Sciences. All rights reserved.
Terms of Use and Privacy Statement