-Adrenoleukodystrophy is a peroxisomal disorder of beta-oxidation that results in accumulation of very long chain fatty acids in all tissues
-ALD is the most common peroxisomal disorder
-ALD is an X-linked disorder; caused by mutations in the ABCD1 gene
-Childhood cerebral forms — Childhood ALD presents between three and ten years of age (peak seven years), representing approximately 35 percent of all phenotypes in the ALD/ AMN complex

  • In males, the very long chain fatty acid (VLCFA) panel is highly sensitive for detecting ALD/adrenomyeloneuropathy (AMN), and is the appropriate first step in the diagnosis.
  • MRI- MRI abnormalities can range from mild to severe. Lesions are usually bilateraL; The occipitoparietal region is typically affected
  • Rx Allogenic HCT has emerged as the treatment of choice for individuals with early stages of cerebral involvement in ALD
  • Uproven therapy: Lorenzo’s oil – Lorenzo’s oil is a mixture of glyceroltrioleate and glyceroltrierucate that reduces the synthesis of VLCFA by competitive inhibition of the enzyme responsible for elongation of saturated fatty acids