Newborn Screening for X-Linked Adrenoleukodystrophy and Other Peroxisomal Disorders

Adrenoleukodystropy is an X-linked disorder that has variable manifestations including adrenal insufficiency, inflammatory demyelination of the brain, and in adults, a progressive spastic paraparesis. Interventions when begun prior to disease onset can be life saving. Using the biochemical abnormality of elevated very long chain fatty acids, we have recently developed a tandem mass spectrometry methodology that can detect altered elevations in lysophospholipids. This methodology is adaptable to regional newborn screening of metabolic disorders offering early diagnosis and intervention in adrenoleukodystrophy and other peroxisomal disorders. We have recently completed testing of sensitivity of the assay.

We propose to perform an initial field trial in Maryland of up to 5000 samples to confirm the sensitivity and specificity. In conjunction with the Maryland State Laboratory and selected regional hospitals, we would obtain consent to add this study to newborn screening obtained at birth and follow up blood spots. Positive results would be called back for additional definitive testing. Successful completion of this aim would establish this as a viable addition to newborn screening.