Abstract:
X-linked adrenoleukodystrophy (X-ALD) is a rare peroxisomal disease caused by a mutation in gene ABCD1, impairing peroxisomal b-oxidation of very long-chain fatty acids. It has a heterogeneous clinical presentation that may difficult the diagnosis, with three main phenotypes: an Addison syndrome-like phenotype with adrenal insufficiency; a myeloneuropathic form, which progresses as a spastic paraparesis; a cerebral form with potentially extensive brain demyelination. Females can present with a phenotype… Show more
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