<unk>  is an autosomal recessive disorder caused by a deficiency of GlcNAc phosphotransferase, which phosphorylates mannose residues to mannose-6-phosphate on N-linked glycoproteins in the Golgi apparatus within<unk> s. Without mannose-6-phosphate to target them to the lysosomes, the enzymes are erroneously transported from the Golgi to the extracellular space. Consequently lysosomes lack the requisite hydrolytic enzymes needed for catabolism of<unk> ular debris, so this debris accumulates within them and forms the characteristic intracellular inclusions (hence the name of the disorder). Hydrolases secreted into the blood stream cause little problem as they are inactivate at the near neutral pH of blood (7.4). It can be associated with N-acetylglucosamine-1-phosphate transferase (GNPTA). In a case report,<unk>  was complicated by severe dilative cardiomyopathy (DCM). Though rare, a deficiency of phosphodiesterase which would cleave GlcNAc from the mannose-6-phosphate tag will also cause<unk> . The presence of lipids, glycosaminoglycans (GAG's) and carbohydrates in the blood provide for the distinguishing characteristic to separate I-cell from Hurler Syndrome. In Hurler's, only glycosaminoglycans would be present.
I-cell disease
Anti-IgLON5 disease
Hyper IgM syndrome
CD25 deficiency
Hyper-IgM syndrome type 1
Hyper-IgM syndrome type 2
Hyper-IgM syndrome type 4
Hyper-IgM syndrome type 5