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Title
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I‑Cell Disease (Mucolipidosis II)
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ImagePath
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System
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lysosomal trafficking disorder
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Overview
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AR lysosomal storage disorder due to failure of Golgi to tag enzymes with mannose‑6‑phosphate.
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Pathophysiology
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N‑acetylglucosaminyl‑1‑phosphotransferase deficiency → enzymes secreted extracellularly → lysosomal inclusions of undigested material.
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Presentation
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Coarse facial features, gingival hyperplasia, restricted joints, claw hand, corneal clouding, ↑ plasma lysosomal enzymes, death in childhood.
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Diagnosis
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Inclusion bodies on fibroblast EM; absent M6P tagging assays.
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Management
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Supportive; PT/OT, respiratory care.
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Epidemiology
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1 : 640 000; more common in Quebec.
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Tags
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