Article
Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics.
Molecular genetics and metabolism - 1 Jun 2016
Schackmann Martin J A, Ofman Rob, van Geel Björn M, Dijkstra Inge M E, van Engelen Klaartje, Wanders Ronald J A, Engelen Marc, Kemp Stephan
Abstract excerpt
X-linked adrenoleukodystrophy (ALD), a progressive neurodegenerative disease, is caused by mutations in ABCD1 and characterized by very-long-chain fatty acids (VLCFA) accumulation. In male patients, an increased plasma VLCFA levels in combination with a pathogenic mutation in ABCD1 confirms the diagnosis. Recent studies have shown that many women with ALD also develop myelopathy. Correct diagnosis is important...
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