GLA c.160C>T (p.L54F) Variant in a Family with Fabry Disease: A Confirmatory Clinical Observation with Biopsy-Proven Kidney Involvement

Fabry disease (FD) is an X-linked lysosomal disorder caused by pathogenic variants in the GLA gene, leading to impaired α-galactosidase A (α-GAL) activity.1 Although more than a thousand GLA variants have been reported, the pathogenic relevance of many remains uncertain and often requires clinical, biochemical, and segregation data for clarification.1,2 We present a family carrying the GLA c.160C>T (p.L54F) substitution, providing additional evidence of its clinical significance.

Cite this article as: Ozer H, Baloglu I, Esen HH, Turkmen K. GLA c.160C>T (p.L54F) variant in a family with Fabry disease: A confirmatory clinical observation with biopsy-proven kidney involvement. Turk J Nephrol. 2026;35(3):252-253.