| N370S (p.Asn409Ser) | The most frequent mutation, associated with Type 1 disease and residual enzyme activity. Homozygosity for N370S typically results in mild to moderate Type 1 disease. |
| L444P (p.Leu483Pro) | Associated with neuronopathic disease when homozygous. This mutation results in severely reduced enzyme activity. |
| 84insG | A frameshift mutation common in Ashkenazi Jewish patients. |
| D409H (p.Asp441His) | Associated with cardiovascular calcification and specific Type 3 phenotypes. |
| V433L (p.Val460Leu) | A mutation associated with Type 3 disease in certain populations. |
| Mechanical effects | Cell accumulation causes organ enlargement and bone marrow infiltration. |
| Inflammatory mediators | Gaucher cells secrete cytokines (IL-6, IL-10, TNF-α, CCL18) that contribute to systemic inflammation and bone pathology. [@pandey2022] |
| Cellular dysfunction | Lipid accumulation disrupts normal macrophage function. |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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