Article
[Phenotypic evolution in adrenoleukodystrophy].
Acta medica portuguesa - 1 Jan 2000
Mendes Paula, Meneses Isabel, Monteiro Luis, Coelho Teresa, Vasconcelos Cristiana, Lemos Manuela, Ferreira Rita, Sá Miranda Maria Clara
Abstract excerpt
The X-linked adrenoleukodystrophy (ALD) is a genetic disease, caused by a defect mapped to Xq28. It is characterised by progressive demyelination of the cerebral white matter and adrenal insufficiency. The most important change that occurs is the accumulation of very long chain fatty acids (VLCFAs). The authors describe a patient whom the initial phenotype was Addison disease only (AO). With 21 years old he...
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