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Adrenoleukodystrophy

Elevated C₂₆ fatty acid in cultured skin fibroblasts and correlation with disease expression in three generations of a kindred

Mayo Clinic and Foundation, Rochester, MN (Dr. O'Neill): the John F. Kennedy Institute, Johns Hopkins University. Baltimore. MD (Dr. Moserl; and the University of Michigan, Ann Arbor, MI (Dr. Marmion).

Varying combinations of central and peripheral nervous system disease and Addison disease were previously described in 14 members of a family. The diagnosis of adrenoleukodystrophy (ALD) was documented in affected individuals by increased content of C_26:0fatty acid (hexacosanoic acid) in cultured skin fibroblasts. The abnormal C₂₆/C.₂₂ fatty acid ratios were not proportional to the neurologic syndrome, severity of disease, or duration.

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

Funding for this project was possible, in part, through the Clinical Research Center, University of Michigan Medical Center (NIH Grant No. 5-M01-RR 00042, "Multicategorical Clinical Research Center") and through Grant No. HD 10981 and a grant from the National Foundation.

Presented at the thirty-second annual meeting of the American Academy of Neurology, New Orleans, LA. 1980.

Accepted for publication September 21, 1981.

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