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NBME 20 Answers

nbme20/Block 3/Question#26

A 3-month-old boy is brought to the physician ...

Mannose 6-phosphate

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submitted by medbitch94(6),

FA2019 page 47: I-cell disease (inclusion cell disease/mucolipidosis type II)—inherited lysosomal storage disorder; defect in N-acetylglucosaminyl-1-phosphotransferase → failure of the Golgi to phosphorylate mannose residues (forming mannose-6-phosphate) on glycoproteins → proteins are secreted extracellularly rather than delivered to lysosomes. Results in coarse facial features, gingival hyperplasia, clouded corneas, restricted joint movements, claw hand deformities, kyphoscoliosis, and high plasma levels of lysosomal enzymes. Often fatal in childhood.