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Updated: Mar 18, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Fabry's Disease: Case Series and Review of Literature
Muzaffar Maqsood Wani1, Imran Khan2, Riyaz Ahmad Bhat2
1Department of Nephrology, Sher-I-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India.
Abstract:
Fabry's disease is an X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase A enzyme with the progressive accumulation of globotriaosylceramide in vascular endothelial cells leading to cardiovascular, renal, gastrointestinal, neuropathic, lenticular, and dermatological manifestations. It is a rare cause of end-stage renal disease. It classically affects males whereas 10-15% of female heterozygote carriers are affected depending on localization. Both the FD and its association with ESRD is rare. With this background, this case series of five patient's along with the review of literature is presented here.
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