Wcn24-2157 Beyond Dialysis: Identifying a Novel Genetic Variant in Classic Fabry Disease in a Male Patient With Mild Renal Impairment

A Fabry disease (FD) (OMIM 301500) is a genetical disorder X-linked that results from a deficiency of the lysosomal enzyme alpha-galactosidase. It leads to accumulation of its substrate globotriaosylceramide (GL3) and globotriaosylsphingosine (LysoGb3), mainly in heart, endothelial and renal cell. Two major phenotypes, classic and later-onset, have been identified. The classic phenotype is caused by absent or minimal (<3% of mean normal) residual alfagalactosidase activity. The natural history of patient with Fabry disease studies showed that complications occurred at a mean age of approximately 40 years old.