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

Turkish Journal of Nephrology · Published 2026-07-06 · DOI 10.5152/turkjnephrol.2026.261216

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Authors (4)

Hakan Özer, İsmail Baloğlu, Hacı Hasan Esen, Kültigin Türkmen

Abstract

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. Published online July 1, 2026. doi: 10.5152/turkjnephrol.2026.261216.

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Publication details

Year
2026

Citation

Özer, H., Baloğlu, İ., Esen, H., et al. (2026). GLA c.160C>T (p.L54F) Variant in a Family with Fabry Disease: A Confirmatory Clinical Observation with Biopsy-Proven Kidney Involvement. Turkish Journal of Nephrology. https://doi.org/10.5152/turkjnephrol.2026.261216

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