A novel ABCD1 gene mutation in a patient with X-linked adrenoleukodystrophy with atypically normal plasma levels of very long chain fatty acids
Aktuglu Zeybek, Cigdem
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X-linked adrenoleukodystrophy (X-ALD) is a rapidly progressive neurodegenerative disorder characterized by progressive demyelination of central nervous system, adrenocortical insufficiency and elevated levels of very long chain fatty acids (VLCFAs) in plasma and tissues. Here, a seven-year-old patient who had atypically normal plasma levels of VLCFAs and whose diagnosis of X-ALD is confirmed by a novel mutation of ABCD1 gene is described.