| multiple sulfatase deficiency | An inherited disorder (autosomal recessive) in which there is a failure to hydrolyze sulfatides and sulfated mucopolysaccharides; this failure leads to their accumulation in neural and extraneural tissues causing demyelination, sulfatiduria, facial and skeletal dysmorphism, etc. (05 Mar 2000) |
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| placental sulfatase deficiency | <enzyme> An enzyme defect in the placenta which results in failure of conversion of 16a-hydroxydehydroepiandrosterone to estriol; women with this condition rarely enter into spontaneous labour. (05 Mar 2000) |
| steroid sulfatase deficiency | A form of ichthyosis, due to 3-beta-hydroxysteroidsulfate sulfatase deficiency, that appears at birth or in early infancy and affects males; characterised by scaling predominantly on the neck and trunk but not on the palms and soles; histologically, there is hyperkeratosis, a granular layer in the epidermis, and normal epidermal cell turnover. Synonym: steroid sulfatase deficiency. (05 Mar 2000) |
| multiple carboxylase deficiency | Abnormalities in carbohydrate and branched-chain amino acid catabolism that are responsive to biotin therapy. It may be due to deficiency of propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, biotinidase, or propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and pyruvate carboxylase. (12 Dec 1998) |
| multiple endocrine deficiency syndrome | <syndrome> Acquired deficiency of the function of several endocrine glands, usually on an auto-immune basis. Synonym: multiple glandular deficiency syndrome. (05 Mar 2000) |
| multiple glandular deficiency syndrome | <syndrome> Acquired deficiency of the function of several endocrine glands, usually on an auto-immune basis. Synonym: multiple glandular deficiency syndrome. (05 Mar 2000) |
| bile salt sulfatase | <enzyme> Produces microorganism from the faecal flora of conventional rats Registry number: EC 3.1.6.- Synonym: bile acid sulfate sulfatase (26 Jun 1999) |
| galactose-6-sulfatase | <enzyme> An enzyme that eliminates sulfur from the galactose-6-sulfate residues of certain mucopolysaccharides, producing 3,6-anhydrogalactose residues; it is absent in Morquio's syndrome type A. Synonym: galactose-6-sulfurase. (05 Mar 2000) |
| glucuronate 2-sulfatase | <enzyme> does not act on iduronate-2-sulfate Registry number: EC 3.1.6.- Synonym: glucurono-2-sulfatase (26 Jun 1999) |
| cerebroside-sulfatase | <enzyme> An enzyme that catalyses the hydrolysis of cerebroside 3-sulfate (sulfatide) to yield a cerebroside and inorganic sulfate. A marked deficiency of arylsulfatase a, which is considered the heat-labile component of cerebroside sulfatase, has been demonstrated in all forms of metachromatic leukodystrophy (leukodystrophy, metachromatic). Chemical name: Cerebroside-3-sulfate 3-sulfohydrolase Registry number: EC 3.1.6.8 (12 Dec 1998) |
| chondro-2-sulfatase | <enzyme> Acts on d-glucuronate 2-sulfate units of chondroitin sulfate, heparin and heparan sulfate Registry number: EC 3.1.6.- (26 Jun 1999) |
| chondro-4-sulfatase | <enzyme> An arylsulfatase that catalyses the hydrolysis of the 4-sulfate groups of the disaccharide repeating units from chondroitin sulfate n-acetylgalactosamine 4-sulfate. The deficiency of chondro-4-sulfatase has been proposed as the defect in maroteaux-lamy syndrome (mucopolysaccharidosis vi). Chemical name: 4-Deoxy-beta-D-gluc-4-enuronosyl-(1,3)-N-acetyl-D-galactosamine-4-sulfate 4-sulfohydrolase Registry number: EC 3.1.6.9 (12 Dec 1998) |
| methylumbelliferone sulfatase | <enzyme> Used as test substrate for arylsulfatases Registry number: EC 3.1.6.- Synonym: 4-methylumbelliferone sulfate sulfatase (26 Jun 1999) |
| heparan N-sulfatase | <enzyme> An enzyme that participates in the stepwise degradation of heparan sulfate; heparan N-sulfatase hydrolyzes the sulfate moiety attached to the amino group of the glucosamine residue of heparan sulfate; a deficiency of this enzyme is associated with mucopolysaccharidose IIIA (Sanfilippo's syndrome A). (05 Mar 2000) |
| heparan sulfate sulfatase | <enzyme> Probable defect in sanfilippo a syndrome Registry number: EC 3.1.6.- Synonym: heparan sulphatase (26 Jun 1999) |