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ABCD1ATP-Binding Cassette, Subfamily D, Member 1
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Although it is still impossible to predict which patients will develop the neurological manifestations of the disease, it has been estimated that approximately 35-40% of children with mutations in the ABCD1 gene will develop cerebral ALD before adulthood [61, 62].
"ABCD1 is a protein located in the peroxisomes, compartments of the cell that detoxify chemicals and lipids, and thus the implication of mitochondria in such a disease was not obvious.
Thus, we recommend targeted DNA analysis of the family's ABCD1 mutation when testing women at risk of being an ALD carrier.
In this study, mice lacking the ABCD1 VLCFA transporter were treated once-daily with VK0214 or vehicle for six weeks, and assessed for changes in VLCFA levels at various time points.
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.