X-linked adrenoleukodystrophy (X-ALD) is an inher­ited disorder of peroxisomal metabolism, characterized by accumulation of saturated very long chain fatty acids (VLCFA). The accumulation is associated with cerebral demyelination, peripheral nerve abnormalities and adreno­cortical insufficiency, and may play a role in the patho­genesis of a brain inflammatory response. Biochemical diagnosis can be done by gas-chromatographic analysis of plasma VLCFA. Detection of index cases in families is important for identification of other affected members, for management of asymptomatic or barely symptomatic cases to avoid or delay appearance of symptoms, for detection of heterozygotes and for providing genetic counseling and prenatal diagnosis for at-risk subjects.

      Keywords: X-adrenoleukodystrophy (X-ALD), Adre­nomyeloneuropathy (AMN), Very long chain fatty acids (VLCFA), Peroxisome, Adrenoleukodystrophy protein (ALDP)