Enzyme Replacement Therapy in Pregnant Women with Fabry Disease: A Case Series.

Fabry disease is a rare inherited lysosomal storage disorder caused by the deficiency of the enzyme alpha-galactosidase A. There is uncertainty regarding the safety of enzyme replacement therapy during pregnancy. We describe the course and outcome of seven pregnancies in six patients with Fabry disease who continued or reinitiated enzyme replacement therapy during pregnancy.

Apical left ventricular hypertrophy and mid-ventricular obstruction in fabry disease.

We report the case of a rare cardiac presentation of Fabry disease. Although concentric left ventricular hypertrophy is a major cardiac finding in Fabry disease, there is no case report of dynamic obstruction at mid-left ventricular level. We describe a 59-year-old-woman suffering from a severe form of Fabry disease, mimicking an apical hypertrophic cardiomyopathy with mid-ventricular obstruction.

A renal variant of Fabry disease: A case with a novel Gal A hemizygote mutation.

Background: Fabry disease is caused by an X-linked recessive inborn error of glycosphingolipid metabolism with deficient activity of a lysosomal enzyme, alpha-galactosidase A (α-GalA).

Case Presentation: A 46 year-old man with progressive kidney disease showed on kidney biopsy electron microscopic evidence of Fabry disease. The patient had no systemic manifestations of Fabry disease, despite residual α-GalA activity, therefore genetic testing was done by direct DNA sequencing, demonstrating a new GAL A gene mutation (C174G-exon 3).