Thelansis

  Adrenoleukodystrophy (ALD), also known as X-linked adrenoleukodystrophy (X-ALD), is the most common peroxisomal disorder. It is distinguished by impaired peroxisomal beta-oxidation of very long-chain fatty acids, which is reduced to about 30% of control levels. Because of mutations in the ABCD1 gene, which encodes the peroxisomal membrane protein ALDP, VLCFA accumulates in the plasma and all tissues, including the brain's white matter, the spinal cord, and the adrenal cortex. In males with X-ALD, the clinical spectrum ranges from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination. By the age of 60, the majority of heterozygous females will have symptoms. The disease course remains unpredictable in individual patients. Based on lipid inclusions in adrenal glands, brain and Schwann cells, testis, Schaumburg, and Powers suggested the term adrenoleukodystrophy for the disorder. Adrenocortical insufficiency can be the presen...