Fabry disease: A treatable lysosomal storage disorder.
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Date
2009-01
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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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Citation
Phadke Shubha R, Mandal Kausik, Girisha K M. Fabry disease: A treatable lysosomal storage disorder. National Medical Journal of India. 2009 Jan-Feb; 22(1): 20-22.