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Mucolipidoses

Cherry Red Spot Myoclonus Syndrome | Ganglioside Sialidase Deficiency Disease | I-Cell Disease | Lipomucopolysaccharidosis | Mucolipidosis | Myoclonus Cherry Red Spot Syndrome | Pseudo-Hurler Polydystrophy | Sialidosis | Inclusion Cell Disease

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. Mental retardation and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)
 
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