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

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.