Biochemical study of adrenoleukodystrophy (ALD).

Abstract

Adrenoleukodystrophy (ALD) is an x-linked hereditary neurological disorder characterized by the accumulation of cholesterol ester with long chain fatty acids in the brain and adrenal gland. We examined cholesterol ester metabolism for the postmortem brain tissues of ALD patients, using cholesterol ester with short and long chain fatty acids as the substrate for hydrolyzing enzyme, as well as short and long chain fatty acids for synthesizing enzyme. No enzyme abnormality was found. However, there was a discrepancy between hydrolytic and synthetic activities with short or long chain fatty acids. The findings suggest that the accumulation of cholesterol ester with long chain fatty acids in ALD brain is not due to enzyme abnormalities, but is a secondary phenomenon which comes from abnormal fatty acid metabolism causing a high concentration of long chain fatty acids.