Treatment of ataxia in isolated vitamin E deficiency caused by a-tocopherol transfer protein deficiency  

Oleh:

Schuelke, Markus ; Mayatepek, Ertan ; Inter, Markus ; Becker, Michael ; Pfeiffer, Ernst

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The Journal of Pediatrics vol. 135 no. 02 (Feb. 1999), page 240-244.
Topik: a-TTP ; a-Tocopherol transfer protein; AVED ; Ataxia with isolated vitamin E deficiency; H50 ; Radical resistance of erythrocytes; expressed as time for 50% hemolysis; LTE4; Leukotriene E4; PCR ; Polymerase chain reaction; TRAP ; Total radical-trapping antioxidant parameter of plasma

Ketersediaan

Perpustakaan FK Nomor Panggil: J45.K.1999.02 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

Dysfunction of the a-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) a-tocopherol transfer protein mutation. After initiation of high-dosage a-tocopherol therapy, the organic mental syndrome disappeared and cognitive function improved rapidly. Neurologic recovery, however, was slow and incomplete.

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