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NBME 16 Answers

nbme16/Block 2/Question#13 (6.1 difficulty score)
A 5-year-old boy is brought to the physician ...
Lysosomes🔍
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submitted by medninja(11),

I cell disease —inherited lysosomal storage disorder (autosomal recessive); defect in N-acetylglucosaminyl-1-phosphotransferase --> failure of the Golgi to phosphorylate mannose residues (decrease mannose-6-phosphate) on glycoproteins -->  proteins are secreted extracellularly rather than delivered to lysosomes