Definition: A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)
Other names Pseudo-Hurler Polydystrophy; Myoclonus Cherry Red Spot Syndrome; Sialidosis; Mucolipidosis; Lipomucopolysaccharidosis; I-Cell Disease; Ganglioside Sialidase Deficiency Disease; Cherry Red Spot Myoclonus Syndrome; Type IV Mucolipidoses; Type III Mucolipidoses; Type II Mucolipidoses; Type I Mucolipidoses; Type 1s, Mucolipidosis; Type 1, Mucolipidosis; Sialidoses; Psuedo-Hurler Diseases; Psuedo Hurler Disease; Pseudo Hurler Polydystrophy; Polydystrophy, Pseudo-Hurler; Mucolipidosis, Type IV
