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Adrenoleukodystrophy: A correlation between saturated very long‐chain fatty acids in mononuclear cells and phenotype
Author(s) -
Antoku Yasunobu,
Koike Fumihiko,
Ohtsuka Yachiyo,
Sakai Tetsuo,
Tsukamoto Kohsuke,
Nagara Hitoshi,
Iwashita Hiroshi,
Goto Ikuo
Publication year - 1991
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410300118
Subject(s) - adrenoleukodystrophy , peripheral blood mononuclear cell , medicine , endocrinology , phenotype , chemistry , biology , in vitro , peroxisome , biochemistry , gene , receptor
Saturated very long‐chain fatty acids in erythrocyte membranes, blood plasma, and mononuclear cells were studied in 4 patients with childhood‐adolescent adrenoleukodystrophy and 4 patients with adult adrenoleukodystrophy and 19 normal control subjects by using high‐performance liquid chromatography. Ratios of C26:0 to C22:0 in mononuclear cells, erythrocyte membranes, and blood plasma in patients with childhood‐adolescent and adult adrenoleukodystrophy were significantly higher than in normal control subjects. Furthermore, ratios of C26:0 to C22:0 in mononuclear cells were significantly higher in patients with childhood‐adolescent adrenoleukodystrophy than in patients with adult adrenoleukodystrophy, whereas there was no significant difference in the ratios in erythrocyte membranes and blood plasma between the two groups of patients with adrenoleukodystrophy. These results suggest that there is a correlation between phenotype and ratio of C26:0 to C22:0 within mononuclear cells in patients with adrenoleukodystrophy.