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Fabry disease: A treatable lysosomal storage disorder.
Article in English | IMSEAR | ID: sea-139032
ABSTRACT
Fabry disease is a lysosomal storage disease with an X-linked inheritance pattern, which presents in childhood as acroparaesthesias. Its non-specific symptoms often lead to delays in the diagnosis. We report the case of a 13-year-old boy who presented with typical acroparaesthesia of Fabry disease, his younger brother had gastrointestinal manifestations of the disease and their mother’s symptoms suggested that she is a carrier. Enzyme replacement therapy helped in ameliorating the patient’s symptoms and preventing complications such as renal failure, stroke and cardiovascular disorders.
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Full text: Available Index: IMSEAR (South-East Asia) Main subject: Recombinant Proteins / Humans / Male / Risk Factors / Adolescent / Lysosomal Storage Diseases / Fabry Disease / Alpha-Galactosidase / Isoenzymes Type of study: Etiology study / Risk factors Language: English Year: 2009 Type: Article

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Full text: Available Index: IMSEAR (South-East Asia) Main subject: Recombinant Proteins / Humans / Male / Risk Factors / Adolescent / Lysosomal Storage Diseases / Fabry Disease / Alpha-Galactosidase / Isoenzymes Type of study: Etiology study / Risk factors Language: English Year: 2009 Type: Article