Stephan Kemp

Adrenoleukodystrophy is one of the most puzzling inborn errors of metabolism of the central nervous system. Pathogenic variants in the ABCD1 gene lead to accumulation of very long-chain fatty acids. Clinical manifestations include adrenal insufficiency, myelopathy, and/or leukodystrophy. The goals of our research are to unravel the pathophysiology of ALD, to predict the clinical outcome of newborns with ALD, to develop a treatment for ALD, and implement ALD newborn screening.