期刊
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS
卷 14, 期 10, 页码 -出版社
SPRINGER
DOI: 10.1007/s11910-014-0486-0
关键词
X-linked adrenoleukodystrophy; ABCD1; Very long chain fatty acids; Very long chain fatty acid myelopathy; Peripheral neuropathy; Hematopoietic cell transplantation
X-linked adrenoleukodystrophy (X-ALD) is a puzzling inborn error of metabolism with a strikingly heterogeneous clinical spectrum. All patients have mutations in the ABCD1 gene and accumulate very long chain fatty acids in all tissues. Virtually all male X-ALD patients develop adrenocortical insufficiency in childhood and progressive myelopathy and peripheral neuropathy in adulthood. A subset of male patients, however, develops a fatal cerebral demyelinating disease, cerebral adrenoleukodystrophy. Female patients also develop progressive myelopathy and peripheral neuropathy, but generally at a later age than males. They only very rarely develop adrenocortical insufficiency or cerebral adrenoleukodystrophy. This review proposes to simplify the classification of the clinical spectrum of X-ALD and reviews the largely unresolved pathophysiological mechanisms and the current treatment options.
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