Journal article

Symptomatic female heterozygotes for adrenoleukodystrophy: A report of two unrelated cases and review of the literature

TJ OBrien, PG Gates, E Byrne

JOURNAL OF CLINICAL NEUROSCIENCE | CHURCHILL LIVINGSTONE | Published : 1996

Abstract

We report two cases of unrelated female heterozygotes for adrenoleukodystrophy (ALD) who have developed progressive neurological disease. Both presented with a progressive myelopathy in midlife and one has since also developed a peripheral neuropathy. Both women had elevated very long chain fatty acid (VLCFA) levels. One patient has been on Lorenzo's oil for 2 years with normalisation of her plasma VLCFA assays but her condition has progressed relentlessly and the second discontinued Lorenzo's oil after 1 month due to unacceptable weight loss. Review of the literature reveals that significant neurological symptoms develop in 15-20% of female heterozygotes and that abnormalities on neurologic..

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