welcome redditors!to snoo-finity ... and beyond!

NBME 22 Answers

nbme22/Block 4/Question#38

Patients with mucolipidosis II (I-cell disease) ...

Secreted from the cells

Login to comment/vote.

 +3  upvote downvote
submitted by mattnatomy(21),

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 (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.