Biomaterial Database

Iduronate sulfatase determination for the diagnosis of the Hunter syndrome and the detection of the carrier state. 1976

E F Neufeld, and I Liebaers, and T W Lim

UI	MeSH Term	Description	Entries
D007066	Iduronate Sulfatase	An enzyme that specifically cleaves the ester sulfate of iduronic acid. Its deficiency has been demonstrated in Hunter's syndrome, which is characterized by an excess of dermatan sulfate and heparan sulfate. EC 3.1.6.13.	Hunter Corrective Factor,Iduronatesulfate Sulfohydrolase,Sulfoiduronate Sulfatase,Iduronate Sulfate Sulfatase,Corrective Factor, Hunter,Factor, Hunter Corrective,Sulfatase, Iduronate,Sulfatase, Iduronate Sulfate,Sulfatase, Sulfoiduronate,Sulfate Sulfatase, Iduronate,Sulfohydrolase, Iduronatesulfate
D007068	Iduronidase	An enzyme that hydrolyzes iduronosidic linkages in desulfated dermatan. Deficiency of this enzyme produces Hurler's syndrome. EC 3.2.1.76.	alpha-L-Idosiduronase,alpha-L-Iduronidase,alpha L Idosiduronase,alpha L Iduronidase
D009083	Mucopolysaccharidoses	Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.	Mucopolysaccharidosis
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D004796	Clinical Enzyme Tests	Analyses for a specific enzyme activity, or of the level of a specific enzyme that is used to assess health and disease risk, for early detection of disease or disease prediction, diagnosis, and change in disease status.	Enzyme Tests, Clinical,Clinical Enzyme Test,Enzyme Test, Clinical,Test, Clinical Enzyme,Tests, Clinical Enzyme
D006579	Heterozygote	An individual having different alleles at one or more loci regarding a specific character.	Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013429	Sulfatases	A class of enzymes that catalyze the hydrolysis of sulfate ESTERS.	Sulfatase
D016532	Mucopolysaccharidosis II	Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15.	Gargoylism, Hunter Syndrome,Hunter's Syndrome,Iduronate 2-Sulfatase Deficiency,Iduronate Sulfatase Deficiency,Sulfoiduronate Sulfatase Deficiency,Hunter Syndrome,Hunter Syndrome Gargoylism,I2S Deficiency,Mucopolysaccharidosis 2,Mucopolysaccharidosis Type 2,Mucopolysaccharidosis Type II,Deficiency, I2S,Deficiency, Iduronate 2-Sulfatase,Deficiency, Iduronate Sulfatase,Deficiency, Sulfoiduronate Sulfatase,Hunters Syndrome,Iduronate 2 Sulfatase Deficiency,Syndrome, Hunter,Syndrome, Hunter's