Familial X‐linked Addison disease as an expression of adrenoleukodystrophy (ALD)

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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 immunopathogenic basis was normal.