P055: Successful utilization of immune tolerance induction in a pediatric patient with classic Fabry disease: A case report

Genetics in Medicine Open 2026 Open access

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Authors: Mary C. Riedy, Nina Zheng, Katherine Tuttle, Jillian Soler, Stephanie McMahon, Nicholas Farris, Ankit K. Desai, Priya Kishnani, Eran Tallis
DOI: 10.1016/j.gimo.2026.103546
Cited by: 1

Abstract

Fabry disease is a rare X-linked lysosomal disorder caused by a deficiency or absence of alpha-galactosidase A (α-Gal-A) enzyme. Fabry disease can largely be classified into two types: classic and atypical. Classic disease is defined by onset in childhood or adolescence with little to no α-Gal-A activity, while atypical disease is characterized by later disease onset with higher residual α-Gal-A enzyme activity. To date, the only FDA-approved enzyme replacement therapy for pediatric patients is agalsidase beta (Fabrazyme).

Fields of Study & Subjects

Lysosomal Storage Disorders Research Whipple's Disease and Interleukins Glycogen Storage Diseases and Myoclonus

Publication details

Journal / source
Genetics in Medicine Open
Publisher
Elsevier BV
Volume
4
Pages
103546–103546
Publication date
1 January 2026
Language
EN