The X-linked condition cerebral-adrenoleukodystrophy (c-ALD) is
characterized by the demyelination of neurons and poor adrenal function.
The root cause of these symptoms is the accumulation of long chain fatty
acids due to a genetic deficiency in the ABCD1 peroxisomal transporter(3).
The resulting oxidative stress likely plays a role in the demyelination of
neurons, eventually leading to death if left untreated. Recently, the
antioxidant, N-acetyl-cysteine (NAC) has been found to increase overall
survival of boys with late-stage childhood c-ALD as adjuvant therapy to stem
cell transplant(2). While it is thought that NAC acts as a precursor to cysteine
which is used for GSH (a potent endogenous antioxidant) synthesis, the
mechanisms of action of NAC are not clear.