ArticleIndian journal of clinical biochemistry : IJCB2025
Phenotypic Evolution in Fabry Disease: Our Experience in Indian Cohort.
Article in Indian journal of clinical biochemistry : IJCB, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
The current study aimed to explore phenotypic evolution in Fabry disease according to demographics, genotype, specific enzyme activity and pathogenicity scores. We integrated clinical, biochemical, and genomic data of 88 Fabry cases (23 from our cohort, 65 from other published data on Indians) to achieve this objective. The affected cases showed profound impairment in the alpha galactosidase enzyme activity (0.73 ± 1.38% mean normal) while carriers showed 15.64 ± 3.68% mean normal activity. The mutation spectrum is highly heterogeneous with eight different mutations identified in eight different patients in our cohort, while the total data is representative of 68 mutations in Indians. The mean CADD score for these mutations was 20.63 ± 10.38. Highly conserved mutations are associated with renal involvement (
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