I cell disease
โinherited 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 --> ย proteins are secreted extracellularly rather than delivered to lysosomes
an1this is I-cell disease. we can tell because it's in a child (indicating AR as those occur in younger ages for the most part), he has recurrent infections, HSM (because the lipids, carbs, and proteins aren't broken down in the lysosome, they enter the blood and may deposit in the liver, spleen, heart, and bone resulting in enlargement), the presence of a NAG is right from FA. these proteins are not tagged with manose-6-phosphate and so don't go to the lysosome for degradation, lysosomal levels also increase in the blood. patients often present just like hurlers, + claw hand and kyphoscolosis. +
submitted by โmedninja(21)
I cell disease โinherited 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 --> ย proteins are secreted extracellularly rather than delivered to lysosomes