Addison’s disease

Novel exon nucleotide deletion causes adrenoleukodystrophy in a Brazilian family

E. R. Valadares, Trindade, A. L. C., Oliveira, L. R., Godard, A. L. B., Arantes, R. R., Daker, M. V., Viana, B. M., Haase, V. G., Jardim, L. B., and Lopes, G. C., Novel exon nucleotide deletion causes adrenoleukodystrophy in a Brazilian family, vol. 10, pp. 65-74, 2011.

Adrenoleukodystrophy is a neurodegenerative X-linked re­cessive disorder. It is characterized by abnormal function of peroxisomes, which leads to an accumulation of very long-chain fatty acids in plasma and tissues, especially in the cortex of adrenal glands and white matter of the central nervous system, causing demyelinating disease and adrenocortical insufficiency (Addison’s disease).

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