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.
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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