Newborn Screening in X-linked Adrenoleukodystrophy and Other Peroxisomal Disorders
Dr. Gerald Raymond, of The Kennedy Krieger Institute, Johns Hopkins University, presented a summary of current progress in the development of newborn screening in adrenoleukodystrophy
Adrenoleukodystrophy (ALD) is an X-linked disorder that has variable manifestations. In young boys, these may include adrenal insufficiency and loss of myelin in the brain. In adults, both men and women, there may be a progressive spastic paraparesis. Boys who inherit the ALD gene require careful monitoring for adrenal and cerebral disease. There are life-saving interventions for this disorder. Experimental therapy with diet and Lorenzo’s oil may reduce the incidence of childhood cerebral disease. If these fail, early, appropriate use of hematopoietic stem cell therapy appears to arrest disease progression. However, these therapies are successful only if begun before clinical symptoms develop.
Virtually all persons with the ALD gene have high levels of very long chain fatty acids (VLCFA) in their plasma. Using this biochemical abnormality, a method has been developed that can detect elevated VLCFA in very small volumes of blood. This method is adaptable to regional newborn screening offering early diagnosis and intervention in adrenoleukodystrophy and other peroxisomal disorders. The sensitivity of the assay was tested in over 500 newborn blood samples, some of which were from children known to have the ALD gene. The assay was able to identify all of the affected samples. Work is now underway to test 5000 samples to confirm the sensitivity and specificity. Successful completion of this phase will establish the assay as a good way to screen all newborn children for the ALD gene. Appropriate monitoring can be initiated immediately. It is anticipated that this would greatly improve the clinical outcome for these children.
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