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
submitted by medninja(11), 2020-01-27T15:30:08Z
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