In this article, Dr. Raphael Schiffmann, Director of the Institute of Metabolic Disease at Baylor Research Institute discusses X-linked adrenoleukodystrophy (X-ALD), the most common leukodystrophy, with an estimated incidence of 1:17,000. Both men and women may be affected. Plasma very long chain fatty acid (VLCFA) concentrations are already elevated at birth. VLCFA screening of at-risk relatives and of patients with idiopathic Addison disease permits diagnosis prior to neurologic involvement.
Three therapies are in current use: adrenal steroid replacement, preventive therapy with Lorenzo Oil for asymptomatic patients with normal MRI, and hematopoietic stem cell transplantation for patients with early cerebral involvement. The latter, however, does not correct the adrenal insufficiency or prevent the myelopathy. Ex-vivo lentiviral gene transfer to hematopoietic stem cells shows great promise. Newborn screening for this disorder has been developed and is beginning to be applied.
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