X-Linked Adrenoleukodystrophy

X-linked adrenoleukodystrophy (X-ALD) is a rare metabolic disorder caused by variants in the ABCD1 gene that lead to an accumulation of very long chain fatty acids (VLCFAs) in tissue.  The buildup of VLCFAs can cause adrenal insufficiency (AI), inflammatory demyelinating cerebral disease, and spinal cord disease.  Early diagnosis is critical because allogeneic hematopoietic stem cell transplantation (HSCT) can slow or even halt cerebral disease progression if performed at an early stage of leukodystrophy  before neurologic symptoms manifest.  (HSCT has no effect on AI. ) Laboratory testing for the diagnosis of X-ALD involves measurement of VLCFAs; the detection of ABCD1 gene variants confirms diagnosis.  Following diagnosis, monitoring is necessary to identify patients for whom treatment is indicated because the disease course is variable. 

Tabs Content
Content Review: 
May 2019

Last Update: May 2019