Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0848771 (neurological disability)
 928 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Clinical, biochemical, and genetic studies of adrenoleukodystrophy (ALD) are of current interest for six main reasons. First, assays of plasma lipids or cultured skin fibroblasts or amniocytes permit precise diagnosis of persons affected by the disease, as well as prenatal diagnosis and carrier detection. Second, the general nature of the enzymatic defect has been identified and the ALD gene has been mapped to the q28 segment of the X-chromosome. Third, the disease is more common than had been previously recognized. We have identified 350 patients in over 200 kindreds. Fourth, phenotypic variability is a striking feature. The illness may present as a rapidly fatal neurological disorder in early childhood or as a chronic progressive paraparesis in young, middle-aged, or even older adults. The latter syndrome is referred to as adrenomyeloneuropathy (AMN). It is of particular interest that these variants occur regularly within the same kindred, so that the phenotypic variation cannot be attributed to different genetic mutations. A fifth feature of interest is that in this X-linked disorder 12 to 40% of female carriers show various degrees of neurological disability, although almost always milder than in the hemizygous male. Studies with cultured fibroblasts suggest that mutant ALD cell lines have a competitive advantage over normal cell lines, a phenomenon which has not been observed in any other disorder. Finally, ALD appears to be one example of a peroxisomal disorder. Knowledge about the normal function of this subcellular organelle has emerged only recently, and further studies of ALD and related disorders will contribute to this.
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PMID:The adrenoleukodystrophies. 355 51

Adrenoleukodystrophy (ALD) is an X-linked disorder that involves mainly the nervous system white matter and adrenal cortex. It is associated with the accumulation of saturated very-long-chain fatty acids (VLCFAs), such as hexacosanoic acid (C26:0), that occurs as a result of the impaired capacity to degrade these substances, a reaction that normally takes place in the peroxisome. The VLCFAs originate from the diet and are also synthesized endogenously. Interest in dietary therapy arose from the observation that the administration of oils containing erucic and oleic acid (Lorenzo's oil), when combined with restriction of dietary intake of VLCFAs, can normalize plasma VLCFA levels in ALD patients. Clinical results in patients who are already symptomatic have been disappointing. However, preliminary data, still in need of confirmation, suggest that dietary therapy begun in asymptomatic patients can reduce the frequency and severity of later neurological disability.
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PMID:Dietary management of X-linked adrenoleukodystrophy. 852 26