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2026, Vol: 10, Issue: 7
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Review Article
Online Published: 18 May 2022
 


Understanding the pathogenic and nonpathogenic mutations and implications of α-galactosidase variant D313Y in Fabry disease

Aly Ezzat, Marwan El Bagoury, Sherif Roushdy, Yahia Aktham.


Abstract
Fabry disease (FD) is a rare, progressive, inherited disorder resulting from a markedly deficient enzyme activity of α-galactosidase A (AGAL), which is caused by mutations in the X-linked α-galactosidase A (GLA) gene. FD is perceived as a multidomain or a heterogeneous disease phenotype associated with complex pathophysiological manifestations and cascading pathways. The AGAL activity accurately predicts the severity of FD. It is vital to study the variants related to FD in the Gulf region because the existing population is mixed, and a founder gene, if predominant in any generation, leads to greater birth rates of autosomal recessive disorders. Identifying the pathogenicity of GLA mutations plays a crucial role in diagnosing and treating FD. We conducted an extensive review of the literature. We pooled data from randomized controlled trials, retrospective observational trials, systematic reviews, and case reports on p.D313Y variant pathogenicity versus nonpathogenicity and clinical significance for establishing genotype-phenotype correlations in patients with suspected FD. Overall, in our review analysis, we included 25 studies. Data on study participants, type of mutation, clinical manifestations, and clinical relevance were collected. Interestingly, we found strong evidence reporting nonpathogenicity of the D313Y variant and categorized it as benign or a variant of uncertain significance. These results will facilitate the clinicians to decide on the correct diagnosis and treatment of FD. Further research is warranted, which would help clarify a possible relationship between the variant and clinical manifestations.

Key words: Fabry disease, p.D313Y, α-galactosidase A, GLA variants, pathogenic variants, variant of unknown significance


 
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How to Cite this Article
Pubmed Style

Ezzat A, Bagoury ME, Roushdy S, Aktham Y. Understanding the pathogenic and nonpathogenic mutations and implications of α-galactosidase variant D313Y in Fabry disease. IJMDC. 2022; 6(6): 864-874. doi:10.24911/IJMDC.51-1634565050

Web Style

Ezzat A, Bagoury ME, Roushdy S, Aktham Y. Understanding the pathogenic and nonpathogenic mutations and implications of α-galactosidase variant D313Y in Fabry disease. https://www.ijmdc.com/?mno=133962 [Access: June 27, 2026]. doi:10.24911/IJMDC.51-1634565050

AMA (American Medical Association) Style

Ezzat A, Bagoury ME, Roushdy S, Aktham Y. Understanding the pathogenic and nonpathogenic mutations and implications of α-galactosidase variant D313Y in Fabry disease. IJMDC. 2022; 6(6): 864-874. doi:10.24911/IJMDC.51-1634565050


Vancouver/ICMJE Style

Ezzat A, Bagoury ME, Roushdy S, Aktham Y. Understanding the pathogenic and nonpathogenic mutations and implications of α-galactosidase variant D313Y in Fabry disease. IJMDC. (2022), [cited June 27, 2026]; 6(6): 864-874. doi:10.24911/IJMDC.51-1634565050


Harvard Style

Ezzat, A., Bagoury, . M. E., Roushdy, . S. & Aktham, . Y. (2022) Understanding the pathogenic and nonpathogenic mutations and implications of α-galactosidase variant D313Y in Fabry disease. IJMDC, 6 (6), 864-874. doi:10.24911/IJMDC.51-1634565050


Turabian Style

Ezzat, Aly, Marwan El Bagoury, Sherif Roushdy, and Yahia Aktham. 2022. Understanding the pathogenic and nonpathogenic mutations and implications of α-galactosidase variant D313Y in Fabry disease. International Journal of Medicine in Developing Countries, 6 (6), 864-874. doi:10.24911/IJMDC.51-1634565050


Chicago Style

Ezzat, Aly, Marwan El Bagoury, Sherif Roushdy, and Yahia Aktham. "Understanding the pathogenic and nonpathogenic mutations and implications of α-galactosidase variant D313Y in Fabry disease." International Journal of Medicine in Developing Countries 6 (2022), 864-874. doi:10.24911/IJMDC.51-1634565050


MLA (The Modern Language Association) Style

Ezzat, Aly, Marwan El Bagoury, Sherif Roushdy, and Yahia Aktham. "Understanding the pathogenic and nonpathogenic mutations and implications of α-galactosidase variant D313Y in Fabry disease." International Journal of Medicine in Developing Countries 6.6 (2022), 864-874. Print. doi:10.24911/IJMDC.51-1634565050


APA (American Psychological Association) Style

Ezzat, A., Bagoury, . M. E., Roushdy, . S. & Aktham, . Y. (2022) Understanding the pathogenic and nonpathogenic mutations and implications of α-galactosidase variant D313Y in Fabry disease. International Journal of Medicine in Developing Countries, 6 (6), 864-874. doi:10.24911/IJMDC.51-1634565050




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