ABSTRACT
X-linked cerebral demyelinating disease with onset in males in childhood, usually with behavioral abnormalities progressive to dementia, speech difficulty, and loss of vision and hearing; relentless progression to decorticate spastic quadriparesis; pigmentation of the skin; adrenal insufficiency; cytoplasmic inclusions; accumulation of very long-chain fatty acids, particularly hexacosanoate (c26:0); defective activity of very long-chain acylCoA synthetase; and mutations in the adenosine triphosphate (ATP)-binding cassette (ABCD1) gene for peroxisomal transmembrane transporter, adrenoleukodystrophy (ALDP) protein.
