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Adrenoleukodystrophy

Published online by Cambridge University Press:  18 September 2015

Brian P. O’Neill  and
Hugo W. Moser
Brian P. O’Neill*
Affiliation:
the Department of Neurology, Mayo Clinic and Mayo Foundation, Rochester, MN (Dr. O’Neill) and the John F. Kennedy Institute and Department of Neurology, The Johns Hopkins Medical Institutions, Baltimore, MD (Dr. Moser)
Hugo W. Moser
Affiliation:
the Department of Neurology, Mayo Clinic and Mayo Foundation, Rochester, MN (Dr. O’Neill) and the John F. Kennedy Institute and Department of Neurology, The Johns Hopkins Medical Institutions, Baltimore, MD (Dr. Moser)
*
Department of Neurology, Mayo Clinic and Foundation, Rochester, MN 55901
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Adrenoleukodystrophy (ALD) is an X-linked degenerative disease characterized by progressive demyelination and adrenal insufficiency. Several phenotypes are described. In post-mortem tissues there is an accumulation of saturated or mono-unsaturated very long chain fattyacids (VLCFA) in the cholesterol ester fraction of adrenal cortex and cerebral white matter. The accumulated fatty acids are unbranched with carbon chain length between 23 and 32 with most containing 25 or 26 carbons. Determination of VLCFA in readily accessible tissues such as skin fibroblasts and plasma allows for reliable detection of patients and carriers.

Type
Subject Review
Information
Canadian Journal of Neurological Sciences , Volume 9 , Issue 4 , November 1982 , pp. 449 - 452
Copyright
Copyright © Canadian Neurological Sciences Federation 1982

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