Isolierter Vitamin-E-Mangel

Abstract

Since the detection of vitamin E in 1922, nearly 50 years passed until the recognition that there is a pathogenic vitamin E deficiency in humans. Such a deficiency can be found mostly in a disturbed resorption or transport of the vitamin (mucoviscidosis, chronic cholestasis, abetalipoproteinaemia) and leads typically to a progredient spinocerebellar ataxia in combination with a polyneuropathy. Substitution of the vitamin may hinder a further progression or even lead to an amelioration of the symptoms. Prophylactic treatment in abetalipoproteinaemia prevents the otherwise unavoidable neurological deficits. Isolated vitamin E deficiency is a rare syndrome and the causes are still obscure. We observed a 26 year old male patient with such a isolated vitamin E deficiency who was hitherto thought to suffer from Friedreich's ataxia. The clinical feature showed in addition to the "classical" symptoms of vitamin E deficiency cranial nerve involvement, perioral dystonia and pyramidal signs. Histologically (M. gastrocnemius) we saw the described typical but not specific changes (neurogenic atrophy, phosphatase-positive vacuoles with myelin bodies, cores). An oral vitamin E resorption test yielded a very shortened serum half life. These results support the hypothesis that in the pathophysiology of isolated vitamin E deficiency malelimination plays an important role in addition the known malresorptions models.

Ataxia with Isolated Vitamin E Deficiency: Heterogeneity of Mutations and Phenotypic Variability in a Large Number of Families

“…Families 3 and 4 (referred by M. Ben Hamida) and 9 and 17 (referred by A. Benomar) belong to large series of Tunisian and Moroccan families, respectively, and are not part of this study. Clinical descriptions were reported elsewhere for families 13 (Burck et al 1981;Kohlschü tter et al 1988), 18 (Laplante et al 1984), 14 (Sokol et al 1988), 16 (Trabert et al 1989), 1 and 2 (Ben Hamida et al 1993b), 8 (Amiel et al 1995, and 28 (Martinello et al, in press), and mutation was reported for 10 families (Ouahchi et al 1995). In addition to the 27 families analyzed here, molecular and clinical data from 6 families were compiled from the literature (Gotoda et al 1995;Hentati et al 1996;Yokota et al 1996Yokota et al , 1997.…”

“…In normal individuals, the latter function accounts for the efficient recycling of plasma vitamin E ( pools/d) that otherwise is 1.4 ‫ע‬ 0.6 rapidly eliminated (Traber et al 1994). FIVE has been described in rare cases, studied during the period 1981-89 (Burck et al 1981;Laplante et al 1984;Harding et al 1985;Krendel et al 1987;Stumpf et al 1987;Yokota et al 1987;Kohlschü tter et al 1988;Sokol et al 1988;Trabert et al 1989). The description, reported in 1993, of eight affected individuals from two large Tunisian pedigrees (Ben Hamida et al 1993b) initiated the identification of many other patients from North Africa, where this condition appears to be much more frequent.…”

Friedreich‐like ataxia with retinitis pigmentosa caused by the His101Gln mutation of the α‐Tocopherol transfer protein gene

“…It is not surprising, therefore, that long-term, severe vitamin E deficiency in our patients caused RP. Seventeen ataxia [5,6,[29][30][31][32][33][34][35][36][37][38][39]. They are sporadic or with family histories suggesting autosomal recessive inheritance.…”