I-cell disease.
A boy with fatal I-cell disease is reported. Defective ganglioside and glycoprotein metabolism is due to deficient neuraminidase activity.
D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D008297:Male; D009081:Mucolipidoses / Q000175:diagnosis* / Q000209:etiology; D008059:Mucopolysaccharidosis I / Q000175:diagnosis