Biochemical evidence for clinically diagnosed adrenoleucodystrophy in two brothers

Adrenoleucodystrophy (ALD) is a rare, X-linked inherited disease affecting the central nervous system. The clinical findings overlap those of other related progressive neurological diseases and complicate the diagnosis. In this article biochemical analyses of the very-long-chain fatty acid distribution in specimens obtained from 2 related patients clinically diagnosed as having ALD, which unequivocally confirmed the diagnosis, are described. Analyses of the long-chain fatty acids were performed on postmortem brain tissue samples from the one patient. In the other, who is in the terminal phase of the disease, the long-chain fatty acids were analysed in plasma, erythrocytes and fibroblasts from tissue culture. The limitations of the different analyses for biochemical identification of ALD are discussed.