Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030552 (paresis)
 5,831 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Adrenomyeloneuropathy is a late type of adrenoleukodystrophy. It is a hereditary disease linked to chromosome X and it is caused by abnormalities in the function of peroxisomes. Adrenomyeloneuropathy results from mutations in ABCD1 gene, that resides on chromosome Xq28 and encodes an integral peroxisomal membrane protein ALDP that belongs to the ATP-binding cassette-transporter family. The enzymatic defect concerns a transporter protein for acyl-CoA synthetase, taking part in beta-oxidation of very long chain fatty acids. This results in their accumulation in various organs. In the clinical picture spastic paresis of lower limbs, cerebellar ataxia, sensation and sphincteral disturbances predominate. This can lead to a misdiagnosis, especially shortly after the onset of symptoms, namely multiple sclerosis may be wrongly diagnosed. Coexisting endocrinological and quite often psychiatric disorders together with characteristic MRI findings facilitate the diagnosis. The diagnosis can be confirmed by a biochemical assay of very long chain fatty acids. We present a case of a 31-year-old man with adrenomyeloneuropathy. We based our diagnosis on a clinical picture and wide range of diagnostic procedures including: neuroradiologic findings, electrophysiologic, hormonal and biochemical tests, which are discussed in this article.
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PMID:[Adrenomyeloneuropathy: a late type of adrenoleukodystrophy linked to chromosome X]. 1530 8