by Sabiha Khatoon, Mohammed A. Junaid Fabry disease (FD) in an inherited lysosomal storage disorder with severe lifelong issues if not therapeutically managed.
The disorder results from mutation in the gene GLA causing the deficiency of lysosomal enzyme α-galactosidase A (AGLA) leading to accumulation of specific glycosphingolipids in several organs. Individuals suffering from FD are treated with either an enzyme replacement therapy providing injected recombinant enzyme or small molecule chaperone therapy through a specific inhibitor, 1-deoxygalactonojiromycin (DGJ), which allows partial folding of functional enzyme that is retained as misfolded protein consequent to mutations.
These therapies suggest that any incremental increase in AGLA activity will be of benefit to individuals with FD. This study is aimed at providing evidence that the synthetic B-complex vitamin, folic acid (FA) necessary in preventing neural tube defects in babies, can significantly stimulate the expression and enzyme activity in human lymphoblastoid cells as well as recombinant AGLA, in a concentration dependent manner.
The extent of FA mediated AGLA stimulation was similar in cells from male or female subjects.
PLOS ONE (Medicine) published a clinical update in Research Highlights on 10 Jun 2026.
The item focuses on Human α-galactosidase A is stimulated by folic acid supplementation – possible implications in Fabry disease management.
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