{"id":5434,"date":"2026-01-08T00:00:00","date_gmt":"2026-01-08T00:00:00","guid":{"rendered":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2025.1664286"},"modified":"2026-01-08T00:00:00","modified_gmt":"2026-01-08T00:00:00","slug":"case-report-novel-gla-mutation-in-a-chinese-female-with-renal-predominant-fabry-disease-and-cardiac-hypertrophy","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/08\/case-report-novel-gla-mutation-in-a-chinese-female-with-renal-predominant-fabry-disease-and-cardiac-hypertrophy\/","title":{"rendered":"Case Report: Novel GLA mutation in a Chinese female with renal-predominant Fabry disease and cardiac hypertrophy"},"content":{"rendered":"BackgroundFabry disease (FD) is a rare X-linked lysosomal storage disorder caused by GLA gene mutations, leading to deficient \u03b1-galactosidase A (\u03b1-Gal A) activity and progressive accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3) in multiple tissues. Diagnosis remains challenging in late-onset renal-predominant phenotypes.Case descriptionA 72-year-old Chinese female presented with end-stage renal disease (ESRD) and hypertrophic cardiomyopathy, prompting a clinical suspicion of FD. The diagnosis was confirmed by the identification of a novel GLA missense variant, c.522T>G (p.Cys174Trp), which was classified as likely pathogenic. All tested family members who carried this variant exhibited the characteristic biochemical phenotype of reduced \u03b1-Gal A activity and elevated lyso-Gb3 levels.ConclusionThis report describes the first documented case of the GLA c.522T>G (p.Cys174Trp) variant, expanding the mutational spectrum of FD in East Asians. The coexistence of ESRD and cardiac hypertrophy should prompt clinicians to consider GLA screening, particularly in females with atypical presentations.","protected":false},"excerpt":{"rendered":"<p>BackgroundFabry disease (FD) is a rare X-linked lysosomal storage disorder caused by GLA gene mutations, leading to deficient \u03b1-galactosidase A (\u03b1-Gal A) activity and progressive accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine &#8230;<\/p>\n","protected":false},"author":342,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,80,12,13],"tags":[71],"class_list":["post-5434","post","type-post","status-publish","format-standard","hentry","category-articulos","category-case-report","category-enfermedades-raras","category-frontiers-in-genetics","tag-frontgenet"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/5434","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/users\/342"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=5434"}],"version-history":[{"count":1,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/5434\/revisions"}],"predecessor-version":[{"id":5435,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/5434\/revisions\/5435"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=5434"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=5434"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=5434"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}