Genetics of metabolic disorders: Systematic assessment of clinicopathological role of GBA and HEXA mutations in Gaucher and Tay-Sachs Disease

Raima Kalhoro; Soobia Pathan; Abdul Rehman Khalil Shaikh; Mohammad Shakeel; Taleeha Roheen; Sami Ali Babekir Ali

2025, Vol: 50, Issue: 2

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RMJ. 2025; 50(2):

Genetics of metabolic disorders: Systematic assessment of clinicopathological role of GBA and HEXA mutations in Gaucher and Tay-Sachs Disease

Raima Kalhoro, Soobia Pathan, Abdul Rehman Khalil Shaikh, Mohammad Shakeel, Taleeha Roheen, Sami Ali Babekir Ali.

Abstract
Objective: To investigates the genetic origins of Gaucher and Tay-Sachs disorders by examining GBA and HEXA gene mutations in relation to disease development, diagnostic methods, and therapeutic strategies.
Methodology: This study followed the PRISMA 2020 guidelines and reviewed articles published between January 2023 until February 2024 using a systematic approach. The relevant articles were identified through PubMed, ScienceDirect, and other major databases, primarily focusing on genetic mutations, their pathological impact, clinical presentation, and treatment options. The initial review of 89 articles yielded 30 relevant studies, 11 were further examined for genetic pattern analysis, genotype-phenotype correlations, and recent treatment breakthroughs. The risk biases of studies were assessed using the Cochrane Risk of Bias tool.
Results: The review showed that different mutations in the GBA and HEXA genes result in symptoms of Gaucher disease and Tay-Sachs disease. The progress in genetic testing along with enzyme therapy improvements, has brought significant benefits to patient outcomes, although limitations in detection methods and therapy accessibility persist.
Conclusion: Healthcare professionals now use discoveries of GBA and HEXA mutations to detect early signs of genetic disorders, which support increased chances for targeted medical interventions. Additional research is required because advanced diagnostic instruments and innovative therapeutic solutions need to be developed for treating complex illnesses.

Key words: HEXA mutation, GBA mutation, Tay-Sachs disease, metabolic disorders, genotype-phenotype correlation, Gaucher disease.

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How to Cite this Article

Pubmed Style

Kalhoro R, Pathan S, Shaikh ARK, Shakeel M, Roheen T, Ali SAB. Genetics of metabolic disorders: Systematic assessment of clinicopathological role of GBA and HEXA mutations in Gaucher and Tay-Sachs Disease.

Web Style

Kalhoro R, Pathan S, Shaikh ARK, Shakeel M, Roheen T, Ali SAB. Genetics of metabolic disorders: Systematic assessment of clinicopathological role of GBA and HEXA mutations in Gaucher and Tay-Sachs Disease. https://www.rmj.org.pk/?mno=243321 [Access: May 12, 2025].

AMA (American Medical Association) Style

Kalhoro R, Pathan S, Shaikh ARK, Shakeel M, Roheen T, Ali SAB. Genetics of metabolic disorders: Systematic assessment of clinicopathological role of GBA and HEXA mutations in Gaucher and Tay-Sachs Disease.

Vancouver/ICMJE Style

Harvard Style

Kalhoro, R., Pathan, . S., Shaikh, . A. R. K., Shakeel, . M., Roheen, . T. & Ali, . S. A. B. (2025) Genetics of metabolic disorders: Systematic assessment of clinicopathological role of GBA and HEXA mutations in Gaucher and Tay-Sachs Disease.

Turabian Style

Kalhoro, Raima, Soobia Pathan, Abdul Rehman Khalil Shaikh, Mohammad Shakeel, Taleeha Roheen, and Sami Ali Babekir Ali. 2025. Genetics of metabolic disorders: Systematic assessment of clinicopathological role of GBA and HEXA mutations in Gaucher and Tay-Sachs Disease.

Chicago Style

Kalhoro, Raima, Soobia Pathan, Abdul Rehman Khalil Shaikh, Mohammad Shakeel, Taleeha Roheen, and Sami Ali Babekir Ali. "Genetics of metabolic disorders: Systematic assessment of clinicopathological role of GBA and HEXA mutations in Gaucher and Tay-Sachs Disease."

MLA (The Modern Language Association) Style

APA (American Psychological Association) Style

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