Mucopolysaccharidosis; Hunter syndrome; Hurler syndrome; Scheie syndrome; Sanfilippo syndrome; Maroteaux-Lamy syndrome; Mucopolysaccharides
A gel-like substance found in body cells, mucous secretions, and synovial fluids.
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.
by Potos A. Aagen, M.D.
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