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Keyword - Mucolipidosis (KW-0942)

Definition

Protein which, if defective, causes mucolipidosis, a group of inherited metabolic diseases characterised 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 are common. All mucolipidosis are lysosomal disorders and are inherited in an autosomal recessive manner.

Category

Disease

Graphical

DiseaseMucolipidosis
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