Adrenoleukodystrophy update: Genetics and effect of Lorenzo's oil therapy in asymptomatic patients

H. W. Moser, F. Kok, S. Neumann, J. Borel, A. Bergin, S. D. Mostafa, R. Panoscha, C. T. Davoli, J. Shankroff, K. D. Smith

Research output: Contribution to journalArticle

Abstract

The putative gene for adrenoleukodystrophy (ALD) has recently been identified, and large deletions in this gene have been demonstrated in 7% of ALD patients. We report here on a study of 20 unrelated ALD patients who did not have deletions. With the aid of single-strand conformation polymorphism (SSCP), we demonstrated migration variants in 17 of these patients and in none of 20 controls. Four of the mutations involved the same dinucleotide deletion. All the other mutations were distinct and consisted of missense or splice-site mutations. During the last 3 years, we also conducted a large-scale study of the effects of glyceryl trioleate and trierucate (Lorenzo's oil) therapy on ALD. Like others, we found that Lorenzo's oil has no significant ameliorating effect on the course of the illness in symptomatic patients. We describe our findings on fifty ALD patients in whom therapy was initiated while they were free of neurological symptoms. The frequency and severity of neurological disability was less than in historical controls. Longer follow-up and additional analysis of the natural history of ALD are required to decide if this favorable result is attributable to dietary therapy.

Original languageEnglish (US)
Pages (from-to)196-204
Number of pages9
JournalInternational Pediatrics
Volume9
Issue number3
StatePublished - Jan 1 1994

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Moser, H. W., Kok, F., Neumann, S., Borel, J., Bergin, A., Mostafa, S. D., Panoscha, R., Davoli, C. T., Shankroff, J., & Smith, K. D. (1994). Adrenoleukodystrophy update: Genetics and effect of Lorenzo's oil therapy in asymptomatic patients. International Pediatrics, 9(3), 196-204.