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The exact impact of inclusion of X-linked adrenoleukodystrophy on the uniform newborn screening panel cannot be completely predicted, but based on the information that we already have, we can estimate it will have a significant impact on the acute and sometimes catastrophic effects of adrenal insufficiency and will reduce the numbers of boys with ALD who are ineligible for the life- saving therapy of bone marrow transplantation because they are identified at a time when the brain disease is too advanced.
We knew that early oxidative damage and bioenergetic dysfunction underlay the late onset degeneration of nerve fibres observed in the mouse model of X-linked adrenoleukodystrophy (X-ALD), the most frequently inherited leukodystrophy, so we looked at mitochondria for further clues.
Identification of X-linked Adrenoleukodystrophy at Birth Allows for Early Intervention, Improved Outcomes for Males With Rare Genetic Disorder
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.
today presented additional data from a pilot study treating X-linked adrenoleukodystrophy (ALD) at the American Society of Gene and Cell Therapy's 13th Annual Meeting.
Myelin Project in Dunn Loring, VA for research into pharmacological gene therapy in X-linked adrenoleukodystrophy