X-linked adrenoleukodystrophy

Abstract

X-linked adrenoleukodystrophy is due to a defect in a gene that has been mapped to X-q28 and codes for a peroxisomal membrane, the function of which has not yet been defined. Its frequency in males is estimated to be 1:21,000. Primary adrenocortical deficiency and progressive nervous system disability are the main clinical manifestations. Neurological manifestations vary widely and range from a rapidly progressive cerebral form that primarily affects boys to a slowly progressive adult form that involve the spinal cord. Analysis of very long chain fatty acids and mutation analysis permit accurate diagnosis of presymptomatic patients, prenatal diagnosis, and carrier identification. Adrenal steroid replacement therapy effectively corrects the adrenal insufficiency. Bone marrow transplantation stabilizes neurological deficits in the childhood cerebral and adolescent forms and offers the promise of long-term benefit, provided it is performed in the early phase of the disease.