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Definitions of I Cell Disease

  1.   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