X-linked adrenoleukodystrophy

X-linked adrenoleukodystrophy is a rare, inherited peroxisomal metabolic disorder caused by pathogenic variants in the ABCD1 gene, which impairs the beta-oxidation of very long-chain fatty acids

X-linked adrenoleukodystrophy is a rare, inherited peroxisomal metabolic disorder caused by pathogenic variants in the ABCD1 gene, which impairs the beta-oxidation of very long-chain fatty acids

This metabolic defect leads to systemic accumulation of these fatty acids, primarily targeting the white matter of the central nervous system, peripheral nerves, and the adrenal cortex

This metabolic defect leads to systemic accumulation of these fatty acids, primarily targeting the white matter of the central nervous system, peripheral nerves, and the adrenal cortex While primarily affecting hemizygous males, heterozygous females may also exhibit manifestations with advancing age Clinical presentations range across distinct phenotypes, including rapidly progressive inflammatory cerebral demyelination leading to profound cognitive and motor deficits, a slowly progressive adult...

This metabolic defect leads to systemic accumulation of these fatty acids, primarily targeting the white matter of the central nervous system, peripheral nerves, and the adrenal cortex

While primarily affecting hemizygous males, heterozygous females may also exhibit manifestations with advancing age

Clinical presentations range across distinct phenotypes, including rapidly progressive inflammatory cerebral demyelination leading to profound cognitive and motor deficits, a slowly progressive adult-onset myelopathy and axonopathy termed adrenomyeloneuropathy, and primary adrenocortical insufficiency