ABSTRACT

Adrenoleukodystrophy is an X-linked neurodegenerative disorder. The biochemical defect consists of the abnormal accumulation of saturated very long chain fatty acids (VLCFA) in plasma and different tissues mainly due to defective peroxisomal β-oxidation.

The nervous system impairment is characterized by progressive demyelination. The adrenal cortex and the testis are also affected. In particular steroidogenesis, which occurs in these districts, might be severely impaired.

Some of the effects that steroid hormones physiologically exert on the nervous system might be defective in this pathology. The role of hormonal steroids needs to be elucidated to better understand the pathogenesis of X- adrenoleukodystrophy.