mucopolysaccharidosis

Any of a group of lysosomal storage diseases that have in common a disorder in metabolism of mucopolysaccharides, as evidenced by excretion of various mucopolysaccharides in urine and infiltration of these substances into connective tissue, with resulting various defects of bone, cartilage, connective tissue, and other organs.

- type IH m. SYN: Hurler syndrome.

- type I H/S m. SYN: Hurler-Scheie syndrome.

- type II m. SYN: Hunter syndrome.

- type III m. SYN: Sanfilippo syndrome.

- type IS m. SYN: Scheie syndrome.

- type IVA, B m. SYN: Morquio syndrome.

- type V m. former designation for Scheie syndrome.

- type VI m. SYN: Maroteaux-Lamy syndrome.

- type VII m. 1. SYN: Sly syndrome. 2. SYN: Di Ferrante syndrome.

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mu·co·poly·sac·cha·ri·do·sis -.sak-ə-rī-'dō-səs n, pl -do·ses -.sēz any of a group of genetically determined disorders (as Hunter's syndrome and Hurler's syndrome) of glycosaminoglycan metabolism that are characterized by the accumulation of glycosaminoglycans in the tissues and their excretion in the urine called also gargoylism, lipochondrodystrophy

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n.

any one of a group of several rare genetic diseases that are inborn error of metabolism in which the storage of complex carbohydrates is disordered. The two most common are Hunter's syndrome and Hurler's syndrome.

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mu·co·poly·sac·cha·ri·do·sis (mu″ko-pol″e-sak″ə-ri-doґsis) pl. mucopolysaccharidoґses. Any of a group of lysosomal storage diseases resulting from defects in degradation of the glycosaminoglycans dermatan sulfate, heparan sulfate, keratan sulfate, chondroitin sulfate or a combination of them, which are then excreted in the urine and accumulate in tissues, affecting the bony skeleton, joints, liver, spleen, eyes, ears, skin, teeth, and the cardiovascular, respiratory, and central nervous systems. The prototype for mucopolysaccharidosis is Hurler syndrome (q.v.).