Fabry Disease

People with Fabry disease have a complete genetic deficiency or lack of the alpha-galactosidase A enzyme. This causes a build up of a fatty substance (glycolipid), usually made up of this enzyme, in the cell lysosomes. The gene responsible for Fabry disease (GLA) is found in the X chromosome, meaning it is passed on via the affected X chromosome of the mother or father.

Malaltia de Fabry Vall d'Hebron
Authorship: Vall d'Hebron
Creation date: 17.12.2021, 10:03
Modification date: 31.01.2022, 13:26
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