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+bilateral hip dislocation(⇔hurler), claw hand deformities, kyphoscoliosis, and high plasma levels of lysosomal enzymes.
Often fatal in childhood.
biochemistry
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