Phadke, Shubha RMandal, KausikGirisha, K M2012-06-152012-06-152009-01Phadke 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.http://imsear.searo.who.int/handle/123456789/139032Fabry 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.enAdolescentFabry Disease --diagnosisFabry Disease --drug therapyFabry Disease --geneticsHumansIsoenzymes --therapeutic useLysosomal Storage Diseases --diagnosisLysosomal Storage Diseases --drug therapyLysosomal Storage Diseases --geneticsRecombinant Proteins --therapeutic useMaleRisk Factorsalpha-Galactosidase --metabolismalpha-Galactosidase --therapeutic useArticle