I-cell disease is an autosomal recessive inherited lysosomal storage disease that results from a defect in N-acetylglucosaminyl-1-phosphotransferase enzymes.
results in a defect of addition of mannose phosphate to lysosomal enzymes.
This results in the failure of mannose residue phosphorylation of lysosomal hydrolases, which subsequently leads to their abnormal expulsion from the cell instead of to their normal site of action within the lysosome.
Presents with coarse facial features, generalized hypotonia, bilateral hip dislocation, and inguinal hernias. Also presents with developmental delay and delayed growth.
increase serum activity of lysosomal enzymes.
submitted by โergogenic22(401)
This question describes I-cell disease (inclusion cell disease/mucolipidosis type II). You can tell because there is mixed accumulation of junk forming the inclusion bodies. Other lysosomal storage diseases have accumulation of one type of substance.
Essentially, there is a defect in defect in the enzyme N-acetylglucosaminyl-1-phosphotransferase.
This means the mannose-6-phosphate tag cannot be added to proteins. Without this tag, proteins are incorrectly sent to the extracellular space rather than delivered to lysosomes.