Mucopolysaccharidosis

Alternative names 
Mucopolysaccharides; Hunter syndrome; Hurler syndrome; Scheie syndrome; Sanfilippo syndrome; Maroteaux-Lamy syndrome; Morquio disease

Definition
A gel-like substance found in body cells, mucous secretions, and synovial fluids.

Information
When there is a deficiency of enzymes necessary to breakdown mucopolysaccharides, a condition called mucopolysaccharidosis (MPS) exists. Mucopolysaccharidoses are a group of genetic disorders that result in excessive accumulation of mucopolysaccharides in body tissues and results in many serious physical disorders.

Usually, this results in various genetic deformities such as skeletal deformities (bone, cartilage, and connective tissue), abnormal facial features, mental retardation, and decreased life expectancy. Examples of these disorders are: Hunter syndrome, Hurler syndrome, Scheie syndrome, Sanfilippo syndrome, Maroteaux-Lamy syndrome, and Morquio disease.

Johns Hopkins patient information

Last revised: December 4, 2012
by Amalia K. Gagarina, M.S., R.D.

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