biostudies-literatureUnknown22Tang ASOBACKGROUND No cases of Fabry disease (FD) have been reported thus far in Malaysia. We aimed to report the demographic characteristics, clinical manifestations, molecular results, and treatment outcomes of 2 FD cases. This study was a retrospective review of 2 family clusters of FD on follow-up in Sarawak, Malaysia. CASE REPORT Two index patients were confirmed to have FD. Index patient 1, who had nephrotic-range proteinuria and cornea verticillata, carried a variant within exon 4 of the GLA gene: c.610 T>C (p.Trp204Arg). Agalsidase beta (Fabrazyme®) enzyme replacement therapy was initiated, with the absence of neutralizing antibody after 24 months. No hypersensitivity or adverse reactions were reported. The patient's proteinuria and renal function remained stable. Other family members who The American journal of case reportse932923https://www.ebi.ac.uk/biostudies/studies/S-EPMC8351246biostudies-literatureFirst 2 Fabry Cases with Novel Mutation and Their Associated Clusters in Malaysia.PMC8351246Wong QYChew LPPao Lin Ting IFam TLTan CHHTang ASOSelvesten PYeo STfalseFirst 2 Fabry Cases with Novel Mutation and Their Associated Clusters in Malaysia.BACKGROUND No cases of Fabry disease (FD) have been reported thus far in Malaysia. We aimed to report the demographic characteristics, clinical manifestations, molecular results, and treatment outcomes of 2 FD cases. This study was a retrospective review of 2 family clusters of FD on follow-up in Sarawak, Malaysia. CASE REPORT Two index patients were confirmed to have FD. Index patient 1, who had nephrotic-range proteinuria and cornea verticillata, carried a variant within exon 4 of the GLA gene: c.610 T>C (p.Trp204Arg). Agalsidase beta (Fabrazyme®) enzyme replacement therapy was initiated, with the absence of neutralizing antibody after 24 months. No hypersensitivity or adverse reactions were reported. The patient's proteinuria and renal function remained stable. Other family members who 2021-01-01T00:00:00Z2021 Aug2025-05-29T20:28:34.66Z2022-02-11T09:45:34.84ZS-EPMC83512463435403610.12659/AJCR.932923