USMLE (Fach) / Biochemistry - Genetics (Lektion)
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I-cell disease
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- autosomal recessive
- lysosomal storage disease- defective GlcNAc phosphotransferase (normally phosphorylates mannose residues to mannose-6-phosphate on N-linked glycoproteins targeted to lysosomes) --> enzymes are secreted into the extracellular space
- build-up of substances making I-cells ("inclusion" cells)
- high levels of lysosomal enzymes in blood
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