| N-acetylgalactosamine-6-sulfatase | <enzyme> Defective in mucopolysaccharidosis iva (morquio a) Registry number: EC 3.1.6.4 Synonym: n-acetylgalactosamine-6-sulfate sulfatase (26 Jun 1999) |
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| N-acetylglucosamine-6-sulfatase | <enzyme> Deficient in sanfilippo syndrome type d Registry number: EC 3.1.6.14 Synonym: nagss, nagsase, glucosamine-6-sulfatase, n-acetylglucosamine-6-sulfate sulfatase (26 Jun 1999) |
| steryl-sulfatase | <enzyme> Arylsulfatases a and b hydrolyze nitrocatechol sulfate, but p-nitrophenyl sulfate is hydrolyzed only slightly by both enzymes; arylsulfatase c hydrolyzes both p-nitrophenyl sulfate and nitrocatechol sulfate, low substrate specificity located chiefly in microsomes; a and b are found in lysosomes; arylsulfatase a is cerebroside sulfatase and arylsulfatase b is chondro-4-sulfatase Registry number: EC 3.1.6.2 Synonym: arylsulfatase c, dehydroepiandrosterone sulfate sulfatase, steroid sulfatase, estrone sulfate sulfohydrolase, steroid sulphatase, cholesterol sulfatase, dhea sulfatase, 3 beta-hydroxysteroid sulfate sulfatase, estrone sulfate sulfatase, sterylsulfatase, steroid sulfohydrolase, cholesterol sulfate sulfatase, arylsulphatase c (26 Jun 1999) |
| N-sulfoglucosamine-3-sulfatase | <enzyme> Acts on n-acetylglucosamine-3-sulfate and n-sulfoglucosamine-3-sulfate Registry number: EC 3.1.6.15 Synonym: n-substituted glucosamine 3-o-sulphatase (26 Jun 1999) |
| sulfatase | 1. Trivial name for enzymes in EC group 3.1.6, the sulfuric ester hydrolases, which catalyze the hydrolysis of sulfuric esters (sulfates) to the corresponding alcohols plus inorganic sulfate; includes aryl-, sterol, glycol-, chondroitin, choline-, cellulose, cerebroside, and chondro-sulfatases. Synonym: arylsulfatase. (05 Mar 2000) |
| disulfoglucosamine-6-sulfatase | <enzyme> Acts on various n-substituted glucosamine-6-o-sulfates Registry number: EC 3.1.6.11 Synonym: disulphoglucosamine-6-sulphatase, glucosamine o,n-disulfate o-sulfohydrolase, glucosamine sulfatase, n-sulfoglucosamine-6-sulfatase (26 Jun 1999) |
| iduronate sulfatase | <enzyme> An enzyme that specifically cleaves the ester sulfate of iduronic acid, and is required for the desulfation of 2-sulfate iduronate residues in heparan sulfate. It is also required in dermatan sulfate degradation. Its deficiency has been demonstrated in Hunter's syndrome, which is characterised by an excess of dermatan sulfate and heparan sulfate. Chemical name: L-Iduronate-2-sulfate 2-sulfohydrolase Registry number: EC 3.1.6.13 (20 Sep 2002) |
| oligosaccharide 2-O-sulfatase | <enzyme> Hydrolyzes the 2-o-sulfate of the disaccharide 4-deoxy-2-o-sulfato-alpha-l-threo-hex-4-enopyranosyluronic acid-(1-4)-2-deoxy-2-sulfamido-6-o-sulfato-d-glucose from heparin Registry number: EC 3.1.6.- Synonym: flavobacterium heparinum 2-o-sulphatase, heparo-2-o-sulfatase (26 Jun 1999) |
| oligosaccharyl sulfatase | <enzyme> From keyhole limpet; hydrolyzes sulfate esters in asparagine-linked oligosaccharides preferentially to 4-nitrocatechol sulfate Registry number: EC 3.1.6.- (26 Jun 1999) |
| lactate-2-sulfate sulfatase | <enzyme> Shows no activity for (l)-isomer Registry number: EC 3.1.6.- Synonym: d-lactate-2-sulfate sulfatase, d-lactate-2-sulfatase (26 Jun 1999) |
| 3b-hydroxysteroid sulfate sulfatase | <enzyme> An enzyme, found in most mammalian tissues, that is capable of hydrolyzing the sulfate ester bonds of a variety of sulfated sterols; a deficiency of this enzyme will result in X-linked ichthyosis. (05 Mar 2000) |
| antibody deficiency disease | <syndrome> Any of a group of disorders associated with a defective antibody production due to defects in the B-type lymphocyte system or in T-type lymphocytes; chief manifestation is an increased susceptibility to infection by various microorganisms. See: agammaglobulinaemia, hypogammaglobulinaemia, immunodeficiency. Synonym: antibody deficiency disease. (05 Mar 2000) |
| deficiency disease | Any disease resulting from undernutrition or an inadequacy of calories, proteins, essential amino acids, fatty acids, vitamins, or trace minerals. (05 Mar 2000) |
| thrombotic disease due to protein c deficiency | Protein C is a protein in plasma that enters into the cascade of biochemical events leading to the formation of a clot. Deficiency of protein c results in thrombotic (clotting) disease and excess platelets with recurrent thrombophlebitis (inflammation of the vein that occurs when a clot forms). The clot can break loose and travel through the blood stream (thromboembolism) to the lungs causing a pulmonary embolism, brain causing a stroke (cerebrovascular accident), heart causing an early heart attack, skin causing what in the newborn is called neonatal purpura fulminans, the adrenal gland causing haemorrhage with abdominal pain, abnormally low blood pressure (hypotension), and salt loss. Protein c deficiency is due to possession of one gene (heterozygosity) in chromosome band 2q13-14. The possession of two such genes (homozygosity) is usually lethal. (12 Dec 1998) |
| abortion, multiple | Couples who have had 2 or more miscarriages (spontaneous abortions) have about a 5% chance that one member of the couple is carrying a chromsome translocation responsible for the miscarriages. (12 Dec 1998) |