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- Title
- I‑Cell disease
- ImagePath
- /Images/I‑Cell_disease_33651fe2-57b0-4014-a27b-d89dc8d689fe.webp
- System
- Lysosomal trafficking defect
- Overview
- Congenital disorder of lysosomal enzyme targeting leading to intracellular inclusions and extracellular enzyme accumulation.
- Pathophysiology
- N‑acetylglucosaminyl‑1‑phosphotransferase deficiency → failure to add mannose‑6‑phosphate to lysosomal enzymes in Golgi → enzymes secreted instead of sent to lysosome.
- Presentation
- Coarse facial features, gingival hyperplasia, clouded corneas, restricted joint movement, claw hand deformities, developmental delay.
- Diagnosis
- ↑Plasma lysosomal hydrolases; inclusion bodies on fibroblast microscopy; genetic testing GNPTAB.
- Management
- Supportive care: physical therapy, management of feeding and respiratory issues; no curative therapy.
- Epidemiology
- Incidence ~1:640,000; autosomal recessive; fatal in childhood.
- Tags