Familial X-linked Addison disease as an expression of adrenoleukodystrophy (ALD): Elevated C26 fatty acid in cultured skin fibroblasts

Brian P. O’Neill, Hugo W. Moser, Krishna M. Saxena

Research output: Contribution to journalArticle

16 Scopus citations

Abstract

Adrenoleukodystrophy (ALD) is a fatal X-linked disorder of very long chain fatty acid (VLCFA) metabolism manifested by disease of the central and peripheral nervous systems and the adrenals. X-linked Addison disease alone, as an expression of ALD, has not been previously reported. We present the results of our study of a unique family among whom clinically apparent Addison disease without neurologic involvement has occurred in affected males, and spastic para-paresis has occurred in female carriers. The presence of ALD was confirmed by VLCFA determination in cultured skin fibroblasts. A comparison group of patients with Addison disease on a putative im-munopathogenic basis was normal.

Original languageEnglish (US)
Pages (from-to)543-547
Number of pages5
JournalNeurology
Volume32
Issue number5
DOIs
StatePublished - May 1982

ASJC Scopus subject areas

  • Clinical Neurology

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