Adrenoleukodystrophy (ALD) is a progressive, genetic disease that affects the adrenal glands, the spinal cord, and the white matter (myelin) of the nervous system. ALD is considered a rare disease, and affects approximately 1 in 17,000 people worldwide.
What causes ALD?
ALD is caused by the mutation of the ABCD1 gene. That gene makes a protein that helps break down very long chain fatty acids (VLCFAs) that are naturally present in the human body and also introduced through diet. This chemical breaking-down process provides the body with energy. Because this particular gene is defective and does not correctly make the required protein, above average levels of these fatty acids build up in patients’ blood and organ tissue.