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Early Diagnosis of Fabry Disease in a Patient with Toe Tip Pain

Park, KB; Han, KR; Lee, JW; Kim, SH; Kim, do W; Kim, C; Ko, JM
The Korean journal of pain, 23(3):207-210, 2010
Journal Title
The Korean journal of pain
Fabry disease is an X-linked lysosomal disease caused by deficiency of α-galactosidase, in which early diagnosis may be missed due to the wide variety of clinical symptoms presenting during disease progression. A 13 year-old boy visited our pain clinic complaining of pricking and burning pain in the toe tips of both feet. Continuous epidural infusion for pain management was performed because of oral analgesics ineffectiveness. The patient underwent α-galactosidase A (GLA) enzyme analysis based on the clinical impression of Fabry disease from pain with a peripheral neuropathic component and history of anhidrosis. He was diagnosed with Fabry disease after confirming mutation of the GLA gene through a screening test of GLA activity. Enzyme replacement therapy was initiated and pain was tolerated with oral analgesics.
acroparesthesiaagalsidase betaanhidrosisfabry disease
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Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
Journal Papers > School of Medicine / Graduate School of Medicine > Anesthesiology & Pain Medicine
AJOU Authors
한, 경림김, 찬고, 정민
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