Fabry disease: A treatable lysosomal storage disorder.
dc.contributor.author | Phadke, Shubha R | |
dc.contributor.author | Mandal, Kausik | |
dc.contributor.author | Girisha, K M | |
dc.date.accessioned | 2012-06-15T08:30:14Z | |
dc.date.available | 2012-06-15T08:30:14Z | |
dc.date.issued | 2009-01 | |
dc.description.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. | en_US |
dc.identifier.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. | en_US |
dc.identifier.uri | https://imsear.searo.who.int/handle/123456789/139032 | |
dc.language.iso | en | en_US |
dc.source.uri | https://www.nmji.in/archives/Volume-22/Issue-1/PDF-volume-22-issue-1/Volume-21-issue-1-Clinical-Case.pdf | en_US |
dc.subject.mesh | Adolescent | |
dc.subject.mesh | Fabry Disease --diagnosis | |
dc.subject.mesh | Fabry Disease --drug therapy | |
dc.subject.mesh | Fabry Disease --genetics | |
dc.subject.mesh | Humans | |
dc.subject.mesh | Isoenzymes --therapeutic use | |
dc.subject.mesh | Lysosomal Storage Diseases --diagnosis | |
dc.subject.mesh | Lysosomal Storage Diseases --drug therapy | |
dc.subject.mesh | Lysosomal Storage Diseases --genetics | |
dc.subject.mesh | Recombinant Proteins --therapeutic use | |
dc.subject.mesh | Male | |
dc.subject.mesh | Risk Factors | |
dc.subject.mesh | alpha-Galactosidase --metabolism | |
dc.subject.other | alpha-Galactosidase --therapeutic use | |
dc.title | Fabry disease: A treatable lysosomal storage disorder. | en_US |
dc.type | Article | en_US |