Mucolipidoses |
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| Deficiency Disease, Ganglioside Sialidase; Inclusion Cell Disease; Mucolipidosis I; Mucolipidosis II; Mucolipidosis III; Mucolipidosis IV; Mucolipidosis Type I; Mucolipidosis Type II; Mucolipidosis Type III; Mucolipidosis Type IV; Psuedo-Hurler 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) | |