Saturated, very long-chain fatty acids in erythrocyte membranes, blood plasma, and mononuclear cells were studied in 4 patients with childhood-adolescent adrenoleukodystrophy, 4 patients with adult adrenoleukodystrophy and 19 normal control subjects in the Department of Neurology, National Chikugo Hospital and the Neurological Institute, Kyusu University, Fukuoka, Japan. The ratios of C26:0 to C22:0 in patients were significantly higher than those of normal control subjects. 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 no significant difference in the ratios in erythrocyte membranes and blood plasma were noted. The results suggest that there is a correlation between phenotype and ratio of C26:0 to C22:0 within mononuclear cells in patients with adrenoleukodystrophy. [1]
COMMENT. Adrenoleukodystrophy is an X-linked recessive disorder characterized by adrenal insufficiency and demyelination of the CNS along with accumulation of saturated very long-chain fatty acids in tissues. Adrenoleukodystrophy has a wide phenotypical variation including childhood adolescent forms, adrenomyeloneuropathy with adult onset and adult rare forms. Variable phenotypes in a family kindred have been described. Marsh W.W. and Hurst D.L. reported a 20 month-old male who presented with a sudden onset of status epilepticus and cortical blindness; the patient died before his affected 5 year-old brother exhibited any features of ALD. [2]