Biomarkers discriminating the phenotypes of X-adrenoleukodystrophy

PCT/EP2024/057204X-linked adrenoleukodystrophy (X-ALD) (OMIM 300100) is the most frequent peroxisomal disorder with a minimum incidence of 1:14,700 births. It is a severe neurometabolic disease characterized by progressive demyelination in the central nervous system (CNS), adrenal insufficiency, and accumulation of very long-chain fatty acids (VLCFA, mainly C26:0). The molecular cause is the loss of function of the ABCD1 transporter which imports these VLCFA for degradation into the peroxisomes. The exact molecular mechanisms of toxicity of these fatty acids in the brain are unknown, although it has been reported that excess of VLCFA provokes mitochondrial transport chain dysfunction and free radicals generation, with failed endogenous antioxidant response, proteostasis and increased ER-stress response.The present invention is related to a dignostic field, in particular with the precise stratification of X-linked adrenoleukodystrophy (X-ALD) using lipidic biomarkers, as well as the prediction/determination to a particular medical regimen.