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the claim
Glucocerebrosidase (GBA) is a lysosomal enzyme that results in Gaucher's disease when deficient due to mutations.
the verdict
SUPPORTED
the evidence backs this
Recorded sources
9 sources for · 0 against
Is it true that Glucocerebrosidase (GBA) is a lysosomal enzyme that results in Gaucher's disease when deficient due to mutations?
Yes. Glucocerebrosidase is a lysosomal enzyme encoded by the GBA1 gene, and deficiencies caused by mutations in this gene result in Gaucher disease.
Verdict: SUPPORTED · 9 sources for, 0 against · Last checked
The analysis
The retrieved papers consistently confirm that mutations in the GBA/GBA1 gene lead to a deficiency in the lysosomal enzyme glucocerebrosidase, which causes Gaucher disease. There are no papers contradicting this established genetic and biochemical fact.
Evidence for · 9
States that Gaucher disease results from biallelic mutations in the GBA1 gene causing deficient glucocerebrosidase activity.
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A, K., T, C., E, S., & TU, H. (2024). Advancements in Viral Gene Therapy for Gaucher Disease.. doi.org. https://doi.org/10.3390/genes15030364
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More for · 8
Confirms glucocerebrosidase deficiency as the underlying cause of Gaucher disease pathophysiology.
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F, C. & MG, B. (2025). Gaucher disease, state of the art and perspectives.. doi.org. https://doi.org/10.1111/joim.20114
Indicates that Gaucher disease type 1 is caused by GBA1 mutations leading to deficient β-glucocerebrosidase enzyme activity.
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F, C., CJ, M., B, L., T, D., JM, J., M, C., C, C., K, K., G, T., E, C., E, S., E, S., S, S., IM, Y., J, P., J, K., N, N., P, K., S, C., Y, S., AP, D., R, S., AC, N., & R, C. (2025). FLT201, a novel liver-directed AAV gene therapy candidate for Gaucher disease type 1.. doi.org. https://doi.org/10.1016/j.ymthe.2025.05.003
Notes that biallelic mutations in GBA1 encode the lysosomal enzyme glucocerebrosidase and are causative for Gaucher disease.
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R, W., T, H., N, H., & D, C. (2026). Interplay of GBA1 with lysosomal dysfunction and inflammation in Parkinson's disease.. doi.org. https://doi.org/10.4103/nrr.nrr-d-25-01082
Identifies Gaucher's disease as a lysosomal storage disorder caused by enzyme deficiency from GBA mutations.
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Önal, G., Gümüş, E., Demir, H., Yüce, A., & (Emre), S. D. (2020). Molecular genetic analysis of Turkish Gaucher's disease patients reveals three novel variants in Glucocerebrosidase (GBA) gene. doi.org. https://doi.org/10.1016/j.mgene.2020.100725
Explains that Gaucher disease is a lysosomal storage disorder caused by glucocerebrosidase gene mutations leading to acid β-glucosidase deficiency.
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F, C., S, L., & M, S. (2026). Glucosylsphingosine (Lyso-Gb1): An Update on Its Use as a Biomarker in Gaucher Disease.. doi.org. https://doi.org/10.3390/ijms27041705
Describes Gaucher disease as an autosomal recessive lysosomal storage disorder caused by GBA1 mutations leading to glucocerebrosidase deficiency.
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DG, P., G, P., T, D., S, S., SM, J., & P, J. (2025). Genotype Meets Phenotype: Unraveling Gaucher's Genetic Landscape in the Indian Population.. doi.org. https://doi.org/10.7759/cureus.92009
Highlights that Gaucher disease stems from deficient glucocerebrosidase activity and lysosomal lipid accumulation.
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A, C., O, M., & G, C. (2026). Gaucher disease: the hematologist's perspective of a multisystemic disorder.. doi.org. https://doi.org/10.1007/s00277-026-06977-3
Confirms that biallelic mutations in GBA1, which encodes glucocerebrosidase, cause Gaucher disease.
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V, F., G, D. R., V, F., A, C., F, C., & V, S. (2026). The dual impact of GBA1 in disease: from germline mutations in neurological disorders to alterations in cancer.. doi.org. https://doi.org/10.1038/s41420-026-03046-6
What does the evidence say?
The retrieved papers consistently confirm that mutations in the GBA/GBA1 gene lead to a deficiency in the lysosomal enzyme glucocerebrosidase, which causes Gaucher disease. There are no papers contradicting this established genetic and biochemical fact.
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