Generally, only laboratory testing can distinguish the two as the presentation is so similar, with high plasma concentrations of lysosomal enzymes, often fatal in childhood.
Some physical signs, such as abnormal skeletal development, coarse facial features (e.g. bulging scaphocephalic head, flat nose), and restricted joint movement, may be present at birth.
Children with ML II generally die before their seventh year of life, often as a result of congestive heart failure or recurrent respiratory tract infections.
[citation needed] I-cell disease 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 cells.
[5] The presence of lipids, glycosaminoglycans (GAG's) and carbohydrates in the blood provide for the distinguishing characteristic to separate I-cell from Hurler Syndrome.
[citation needed] Diagnostic measures can include the following: Before birth: In infants: There is no cure for I-cell disease/Mucolipidosis II disease; treatment is limited to controlling or reducing symptoms.