Developmental Malformations
Septo-optic-pituitary dysplasia complex
Jun. 20, 2024
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Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125
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The enzyme alpha-galactosidase A cleaves off the third sugar residue. In Fabry disease this enzyme is deficient, and therefore the substrate Gb3 accumulates in the lysosomes of almost all cell types. (Source: Amodio F, Caiazza M, Monda E, et al. An overview of molecular mechanisms in Fabry disease. Biomolecules 2022;12[10]:1460. Creative Commons Attribution [CC BY] license, creativecommons.org/licenses/by/4.0.)