Mucolipidosis

Mucolipidosis is a group of inherited metabolic disorders that affect the body's ability to carry out the normal turnover of various materials within cells. The name arose from a similarity in presentation to both the mucopolysaccharidoses and the sphingolipidoses. Four conditions, types I to IV, were historically labeled mucolipidoses, but type I, sialidosis, is now classed as a glycoproteinosis and type IV as a gangliosidosis. Types II and III result from a deficiency of the enzyme N-acetylglucosamine-1-phosphotransferase. The mucolipidoses are inherited in an autosomal recessive manner. Diagnosis is based on clinical symptoms, medical history and laboratory tests, with skeletal abnormalities, vision problems and developmental delays often present from birth or early childhood. No cure is known, and therapies address symptoms.