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

Elevated C₂₆fatty acid in cultured skin fibroblasts

Mayo Clinic and Foundation, Rochester, MN (Dr. O'Neilll; the John F. Kennedy Institute, Johns Hopkins University, Baltimore, MD (Dr. Moser); and the Childrens Hospital of St. Paul and University of Minnesota, Minneapolis, MN (Dr. Saxena).

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.

Address correspondence and reprint requests to Dr. O'Neill, Department of Neurology, Mayo Clinic and Foundation, Rochester, MN 55901.

Accepted for publication October 10, 1981.