Optic nerve demyelination as the presenting feature of adrenoleukodystrophy in a child
Sign Up to like & getrecommendations! Published in 2022 at "Indian Journal of Ophthalmology"
DOI: 10.4103/ijo.ijo_2210_21
Abstract: Adrenoleukodystrophy (ALD) is an x‐linked recessive lipid storage genetic disorder due to modifications in the ABCD1 (ATP‐binding cassette) gene, resulting in defective peroxisomal β‐oxidation and the excessive collection of very‐long‐chain fatty acids (VLCFAs) in tissues… read more here.
Keywords: presenting feature; optic nerve; demyelination presenting; nerve demyelination ... See more keywords