BACKGROUND‐Adrenoleukodystrophy is a rare inherited disorder of lipid metabolism. Patients may present in the pediatric age group or as adults. The clinical picture is variable, and the pathology affects many organs in the body, though primarily the adrenal cortex and the CNS white matter. In the cerebral form, the disease is fatal after several years of severe neurologic dysfunction. In the spinal form, it is a progressive, disabling disease. Diagnosis can reliably be made by measuring very long chain fatty acids in the serum.REVIEW SUMMARY‐This review studies the different aspects of adrenoleukodystrophy. The genetics behind the inheritance of this disease is presented first, followed by a discussion of the pathophysiology of the disease and a detailed description of the different presentations, classifications, and symptoms. The diagnostic tests are explained with emphasis on their specificities and reliability. A detailed description of the different modes of therapy available is presented.CONCLUSIONS‐Adrenoleukodystrophy is a rare and fatal disease. Its presentation is variable, making clinical diagnosis difficult. Reliable diagnosis can be performed with the present laboratory tests. Genetic counseling is of utmost importance as there is no effective therapy.(THE NEUROLOGIST 6:214‐219, 2000)