Acroparesthesia in a Female: Diagnostic Dilemma

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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Main Authors: Fnu Kelash, Lara Kujtan, Padmaja V. Mallidi
Format: Article
Language:English
Published: Hindawi Limited 2014-01-01
Series:Case Reports in Medicine
Online Access:http://dx.doi.org/10.1155/2014/172197
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spelling doaj-014985448d1e48f9ba3dbc592a2544522020-11-24T23:21:02ZengHindawi LimitedCase 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
collection DOAJ
language English
format Article
sources DOAJ
author Fnu Kelash
Lara Kujtan
Padmaja V. Mallidi
spellingShingle Fnu Kelash
Lara Kujtan
Padmaja V. Mallidi
Acroparesthesia in a Female: Diagnostic Dilemma
Case Reports in Medicine
author_facet Fnu Kelash
Lara Kujtan
Padmaja V. Mallidi
author_sort Fnu Kelash
title Acroparesthesia in a Female: Diagnostic Dilemma
title_short 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_sort acroparesthesia in a female: diagnostic dilemma
publisher Hindawi Limited
series Case Reports in Medicine
issn 1687-9627
1687-9635
publishDate 2014-01-01
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.
url http://dx.doi.org/10.1155/2014/172197
work_keys_str_mv AT fnukelash acroparesthesiainafemalediagnosticdilemma
AT larakujtan acroparesthesiainafemalediagnosticdilemma
AT padmajavmallidi acroparesthesiainafemalediagnosticdilemma
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