| 释义 |
Hunter syndrome
Hunter syndrome[′hənt·ər ‚sin‚drōm] (medicine) An X-linked recessive disease in which a deficiency of the enzyme iduronate sulfatase leads to the accumulation of mucopolysaccharides in various body tissues, resulting in developmental abnormalities, skeletal deformations, mental retardation, and, in severe cases, early death. Also known as mucopolysaccharidosis II. Hunter syndrome
Hun·ter syn·drome (hŭn'tĕr), [MIM*309900] an error of mucopolysaccharide metabolism characterized by deficiency of iduronate sulfatase, with excretion of dermatan sulfate and heparan sulfate in the urine; clinically similar to Hurler syndrome but distinguished by less severe skeletal changes, no corneal clouding, and X-linked recessive inheritance; caused by mutation in the iduronate sulfatase gene (IDS) on chromosome Xq. Synonym(s): mucopolysaccharidosis type IIHunter syndrome (hŭn′tər)n. A type of mucopolysaccharidosis (MPS II) that occurs almost exclusively in males, characterized by the presence of dermatan sulfate and heparan sulfate in the urine, skin lesions, airway obstruction, enlargement of the liver and spleen, short stature due to skeletal abnormalities, hearing loss, and, in some forms, intellectual disability.An X-linked recessive lysosomal storage disease type of inborn error of metabolism [MIM 309900] due to a deficit of iduronate-2-sulfatase, resulting in an accumulation of glycosaminoglycans
Management Nothing has proven effectiveHunter syndrome Mucopolysaccharidosis type II Molecular medicine An X-R inborn error of metabolism caused by a deficit of sulfoiduronate or iduronosulfate sulfatase Clinical Type A–early onset is associated with a large skull, coarse facial features, profound mental retardation, spasticity, stiffness, aggressive behavior; type B is milderHunt·er syn·drome (hŭn'tĕr sin'drōm) An error of mucopolysaccharide metabolism characterized by deficiency of iduronate sulfatase, with excretion of dermatan sulfate and heparan sulfate in the urine; clinically similar to Hurler syndrome but distinguished by less severe skeletal changes, an absence of corneal clouding, and X-linked recessive inheritance; caused by mutation in the iduronate sulfatase gene (IDS) on chromosome Xq. Hunter, Charles H., Canadian physician, 1872-1955. Hunter syndrome - an error of mucopolysaccharide metabolism. Synonym(s): type II mucopolysaccharidosis |