Article
Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency.
The Journal of pediatrics - 1 Feb 1999
Schuelke M, Mayatepek E, Inter M, Becker M, Pfeiffer E, Speer A, Hübner C, Finckh B
Abstract excerpt
Dysfunction of the alpha-tocopherol transfer protein causes ataxia with isolated vitamin E deficiency. A 14-year-old male patient presented with ataxia and mental symptoms caused by a homozygous (552G-->A) alpha-tocopherol transfer protein mutation. After initiation of high-dosage alpha-tocophero...
Topics
- Adolescent
- Ataxia
- Carrier Proteins
- DNA
- Humans
- Male
- Mutation
- Vitamin E
- Vitamin E Deficiency