Adrenoleukodystrophy

Brian P. O’neill, Hugo W. Moser

Research output: Contribution to journalArticle

9 Scopus citations

Abstract

Adrenoleukodystrophy (ALD) is an X-linked degenerative disease characterized by progressive demyelination and adrenal insufficiency. Several phenotypes are described. In post-mortem tissues there is an accumulation of saturated or mono-unsaturated very long chain fattyacids (VLCFA) in the cholesterol ester fraction of adrenal cortex and cerebral white matter. The accumulated fatty acids are unbranched with carbon chain length between 23 and 32 with most containing 25 or 26 carbons. Determination of VLCFA in readily accessible tissues such as skin fibroblasts and plasma allows for reliable detection of patients and carriers.

Original languageEnglish (US)
Pages (from-to)449-452
Number of pages4
JournalCanadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
Volume9
Issue number4
DOIs
StatePublished - Nov 1982

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Fingerprint Dive into the research topics of 'Adrenoleukodystrophy'. Together they form a unique fingerprint.

  • Cite this