The following leukodystrophy is characterized by the inability to properly catabolize very-long-chain fatty acids (VLCFA) within peroxisomes and with elevated levels of VLCFA in serum:

(C) Adrenoleukodystropy # ADRENOLEUKODYSTROPHY This disorder, which has several clinically and genetically distinct forms, is a progressive disease with symptoms referable to myelin loss from the CNS and peripheral nerves as well as adrenal insufficiency. In general, forms with earlier onset have a more rapid course. The X-linked form usually presents in the early school years with neurologic symptoms and adrenal insufficiency and is rapidly progressive and fatal. In individuals with later onset the course is more protracted; when it develops in adults it is usually a slowly progressive disorder with predominantly peripheral nerve involvement developing over a period of decades. The disease is associated with mutations in the ALD gene on chromosome Xq28, which encodes a member of the ATP- binding cassette transporter family of proteins, ABCD1. However, there is little correlation between clinical course and the underlying mutations. The disease is characterized by the inability to properly catabolize very-long-chain fatty acids (VLCFAs) within peroxisomes, with elevated levels of VLCFAs in serum. There is loss of myelin, accompanied by gliosis and extensive lymphocytic infiltration. Atrophy of the adrenal cortex is present, and VLCFA accumulation can be seen in remaining cells.