Author(s): Rolfs, Prof. Arndt, MD, Giese, Anne Katrin, MD, Eichler, Sabrina, PhD, Lukas, Jan, PhD, Scalia, Simone, Pockrandt, Anne-Marie, Dehn, Nicole, Cozma, Dr. rer. nat. Claudia, MD
In this publication we conclude that a mild GLA variant is typically characterized by high residual enzyme activity and normal biomarker levels. Read more!
Fabry disease (FD) is a rare metabolic disorder of glycosphingolipid storage caused by mutations in the GLA gene encoding lysosomal hydrolase α-galactosidase A (α-gal A). We conclude that a mild GLA variant is typically characterized by high residual enzyme activity and normal biomarker levels. We found evidence that these variants can still be classified as a distinctive, but milder, sub-type of FD.
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