ADRENOLEUKODYSTROPHY - CLINICAL AND THERA PEUTIC ASPECTS IN THE ITALIAN EXPERIENCE

X-linked Adrenoleukodystrophy (ALD) is a inborn error of peroxisomal m etabolism characterized by progressive demyelination of the central ne rvous system and by hypoadrenalism. The biochemical defect of ALD prov okes an impairment in degradation of very long chain fatty acid (VLCFA ) with their accumulation in plasma and tissues. Male patients and fem ale carriers show abnormally increased VLCFA plasma levels. We present clinical features of 63 patients with X-linked ALD from 47 families. Fourty eight patients have been submitted to a restricted VLCFA diet a nd glicerol trioleate/erucic acid mixure supplementation. We conclude that this dietary therapy, although is able to normalize VLCFA plasma levels, is not effective in stopping the clinical course of X-linked A LD. Some selected patients, in the very early onset of neurological sy mptoms detected by neuropsycological test, can be proposed to bene mar row transplantation.