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Updated: Jun 20, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Fabry disease: a treatable lysosomal storage disorder
Shubha R Phadke1, Kausik Mandal, K M Girisha
1Sanjay Gandhi Postgraduate Institute of Medical Sciences, Rae Bareli Road, Lucknow 226014, Uttar Pradesh, India. shubha@sgpgi.ac.in
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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