Fabry's disease: a multidisciplinary disorder.
case_report · Level V
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- Record sourced from PubMed, PMID 9519183.
- Also identified by PMC identifier 2431567.
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Abstract
Fabry's disease is an X-linked hereditary disorder resulting in accumulation of a glycolipid (galactosylgalactosyl glucosylceramide) due to deficiency of alpha-galactosidase A. The diagnosis can be made by histopathologic examination of skin biopsy, low activity of alpha-galactosidase in leucocytes and genetic examination. Treatment is symptomatic. We want to stress the multidisciplinary collaboration necessary to deal with this condition, in order to prevent acceleration of symptoms.
Medical subject headings
- Fabry Disease