Acroparesthesia in a Female: Diagnostic Dilemma
Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of a-galactosidase A (also known as ceramide trihexosidase) and resultant accumulation of globotriaosylceramide (Gb3) and related glycophospholipids. The disease affects nearly all major organ systems, with the pri...
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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2014/172197 |
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| author | Fnu Kelash Lara Kujtan Padmaja V. Mallidi |
| author_facet | Fnu Kelash Lara Kujtan Padmaja V. Mallidi |
| author_sort | Fnu Kelash |
| collection | DOAJ |
| description | Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of a-galactosidase A (also known as ceramide trihexosidase) and resultant accumulation of globotriaosylceramide (Gb3) and related glycophospholipids.
The disease affects nearly all major organ systems, with the primary sites damaged by Gb3 including renal glomeruli, myocardium, neurons of the dorsal ganglion and autonomic nervous system, and vascular endothelial and smooth muscle. Progressive deposition in these organ systems leads to renal and heart failure; debilitating pain as a result of nervous system involvement also occurs. |
| format | Article |
| id | doaj-art-014985448d1e48f9ba3dbc592a254452 |
| institution | Kabale University |
| issn | 1687-9627 1687-9635 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Medicine |
| spelling | doaj-art-014985448d1e48f9ba3dbc592a2544522025-02-03T06:08:02ZengWileyCase Reports in Medicine1687-96271687-96352014-01-01201410.1155/2014/172197172197Acroparesthesia in a Female: Diagnostic DilemmaFnu Kelash0Lara Kujtan1Padmaja V. Mallidi2Carilion Clinic Virginia, 1906 Belleview Ave SE, Roanoke, VA 24014, USACarilion Clinic Virginia, 1906 Belleview Ave SE, Roanoke, VA 24014, USACarilion Clinic Virginia, 1906 Belleview Ave SE, Roanoke, VA 24014, USAFabry disease is an X-linked lysosomal storage disorder caused by deficient activity of a-galactosidase A (also known as ceramide trihexosidase) and resultant accumulation of globotriaosylceramide (Gb3) and related glycophospholipids. The disease affects nearly all major organ systems, with the primary sites damaged by Gb3 including renal glomeruli, myocardium, neurons of the dorsal ganglion and autonomic nervous system, and vascular endothelial and smooth muscle. Progressive deposition in these organ systems leads to renal and heart failure; debilitating pain as a result of nervous system involvement also occurs.http://dx.doi.org/10.1155/2014/172197 |
| spellingShingle | Fnu Kelash Lara Kujtan Padmaja V. Mallidi Acroparesthesia in a Female: Diagnostic Dilemma Case Reports in Medicine |
| title | Acroparesthesia in a Female: Diagnostic Dilemma |
| title_full | Acroparesthesia in a Female: Diagnostic Dilemma |
| title_fullStr | Acroparesthesia in a Female: Diagnostic Dilemma |
| title_full_unstemmed | Acroparesthesia in a Female: Diagnostic Dilemma |
| title_short | Acroparesthesia in a Female: Diagnostic Dilemma |
| title_sort | acroparesthesia in a female diagnostic dilemma |
| url | http://dx.doi.org/10.1155/2014/172197 |
| work_keys_str_mv | AT fnukelash acroparesthesiainafemalediagnosticdilemma AT larakujtan acroparesthesiainafemalediagnosticdilemma AT padmajavmallidi acroparesthesiainafemalediagnosticdilemma |