Translated title of the contribution: Adrenoleukodystrophy: Clinical and therapeutical aspects in the Italian experience

M. Cappa, E. Bertini, P. Cambiaso, P. Del Balzo, M. Di Capua, L. Milani, P. Bardelli, M. Rimoldi, G. Uziel

Research output: Contribution to journalArticlepeer-review


X-linked Adrenoleukodystrophy (ALD) is a inborn error of peroxisomal metabolism characterized by progressive demyelination of the central nervous system and by hypoadrenalism. The biochemical defect of ALD provokes an impairment in degradation of very long chain fatty acid (VLCFA) with their accumulation in plasma and tissues. Male patients and female 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 and glycerol trioleate/erucic acid mixture supplementation. We conclude that this dietary therapy, although it is able to normalize VLCFA plasma levels, is not effective in stopping the clinical course of X-linked ALD. Some selected patients, in the very early onset of neurological symptoms detected by neuropsychological test, can be proposed to bone marrow transplantation.

Translated title of the contributionAdrenoleukodystrophy: Clinical and therapeutical aspects in the Italian experience
Original languageItalian
Pages (from-to)130-137
Number of pages8
JournalRivista Italiana di Pediatria
Issue number2
Publication statusPublished - 1994

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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