Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.1.6.1 (sulfatase)
 3,205 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Electrophoretic examination of extracts of cultured amniotic fluid cells from a pregnancy at risk for metachromatic leukodystrophy (MLD) showed absence of arylsulfatase A (AS-A) activity. Immunodiffusion with anti-human AS-A immune serum failed to show enzymatically active arcs of immune precipitate. Electrophoretic studies and quantitative assay of extracts of organs from the aborted fetus confirmed the diagnosis of MLD. Electrophoresis of amniotic fluid from this and one additional fetus with MLD showed an arylsulfatase pattern qualitatively and quantitatively indistinguishable from normal. In both normal and MLD fluids, the AS-A band was replaced by a band with lower anodal mobility. Only the anodal band of normal amniotic fluid, however, reacted with the anti-AS-A immune serum in immunoelectrophoresis. Assay of amniotic fluic with p-nitrocatechol sulfate (PNCS) as a substrate showed marked deficiency of "AS-A" activity in the fluids from the two MLD pregnancies. An optimal procedure for prenatal detection of MLD should include electrophoresis of extracts of cultured amniotic fluid cells with visual demonstration of absence of AS-A activity. Immunologic techniques applied to cell-free amniotic fluid may be of help in the rapid identification of the fetal genotypes.
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PMID:Prenatal diagnosis of metachromatic leukodystrophy by electrophoretic and immunologic techniques. 2 May 96

Arylsulfatase A and B in urine have been estimated in 18 normal subjects and 50 bilharziasis patients. The bilharziasis patients were divided into two groups according to the type of infeciton. Those with bilharziasis haematobian type of infection and those with the bilharziasis mansoni type. Each group was further subdivided into subgroups according to the severity and progress of the disease. The activities of arylsulfatase A and B were significantly elevated in all the groups of patients studied and it is evident that there is a progressive increase with the progress of the disease in both types of bilharziasis infections (the haematobian and mansoni types). Liver dysfunction consequent of bilharzial infestation appears to take part in the mechanism of induction of the bilharzial bladder cancer.
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PMID:Arylsulfatases in bilharziasis. 2 42

Purified human liver arylsulfatase A on polyacrylamide gel electrophoresis at pH 4.0 is separated into two protein forms with enzymatic activity and two distinct inactive subunits. All of these components were immunologically distinguishable using different antisera preparations. In late infantile metachromatic leukodystrophy, only one of the two inactive subunits was immunologically detected, whereas in the juvenile form of metachromatic leukodystrophy, both inactive subunits were antigenically present.
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PMID:Immunologic studies of arylsulfatase A in normal and metachromatic leukodystrophy liver. 2 10

The enzymatic activity of five acid hydrolases: acid phosphatase, arylsulfatase A, deoxyribonuclease, beta-glucuronidase, and cathepsin D, was assayed in fetal (fifteenth and eighteenth days of pregnancy) and neonatal (Days 0, 5, 10, and 15 post-partum) mouse liver. With the exception of cathepsin D, the activity increased around birth to levels varying according to the enzyme. Histochemical observations of other authors appear to justify, at least in part, the present results, which indicate that late days of fetal development and early neonatal life may constitute a transitional stage to full lysosomal enzyme functionality of the adult organ. The livers of the mothers were also assayed for the same enzymes. Each activity showed a peculiar pattern which was, in turn, different from that found in the liver of the litter for the same enzyme, probably as a cause of the metabolic requirement of the gland. The hypothesis that the lysosomes are heterogeneous in their enzyme composition is suggested by the variety of enzymatic patterns found in the liver of the litters and their mothers.
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PMID:The development of lysosomal apparatus. I. Lysosomal enzyme activities in the liver of mice at perinatal stages and those of their mothers. 2 3

A new adult case of metachromatic leucodystrophy (MLD) is reported. The earliest clinical signs are psychiatric in contra-distinction with the prevalent neurological signs observed in infantile or juvenile MLD. Although the occurrence of psychiatric features in adolescents or adults does not at first suggest MLD, it is easy to ascertain the diagnosis by combining the enzymatic assay of arylsulfatase A on leucocytes or cultured fibroblasts with the morphological study of nerve bundles. Such a discovery has of course a major importance in genetic counselling.
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PMID:[Adult metachromatic leucodystrophy (author's transl)]. 2 55

Metachromatic leucodystrophies (MLD) comprise a small group of heredodegenerative disorders of the nervous system. Deficiency of sulfatide-sulfatase or arylsulfatase A is the common defect in all forms of MLD leading to lysosomal sulfatide storage in the nervous tissue and in the kidney. On the basis of animal experiments, experiments with cultured fibroblasts of the patients as well as ultrastructural studies in a case of prenatal MLD, the following pathomechanism is proposed: 1. Lysosomal degradation of a large portion newly synthetised sulfatide normally regulating the net synthesis and incorporation of sulfatide into myelin, causes early accumulation of sulfatide in lysosomes of myelinating cells and in neurons in the genetic deficiency of arylsulfatase A. 2. Early accumulation of sulfatide does not lead to disturbance in myelination. Demyelination occurs possibly by storage of a cytotoxic compound, psychosin sulfate, also a substrate for the missing enzyme. Prevention of MLD is possible by prenatal diagnosis of arylsulfatase A deficiency in cultured amniotic cells. Enzyme substitution of the missing arylsulfatase A is possible by exogenous uptake of the enzyme in cultured fibroblasts. Thereby the defect of sulfatide degradation can be corrected. Although principles of enzyme substitution have been demonstrated, the problems of treating patients with MLD with arylsulfatase A infusions have yet to be overcome.
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PMID:[Pathophysiology of sulfatide metabolism in metachromatic leukodystrophy]. 2 69

Adult metachromatic leukodystrophy is a demyelinating disease due to an inherited lack of arylsulfatase A activity. The purpose of this paper is to present the characteristics of this disorder as they occurred chronologically in two siblings, prior to and subsequent to the appearance of gross neurological deficits. A deficit in spatial relationships, as contrasted with verbal abilities, was observed initially in both cases at age 13. Initial psychiatric symptoms were noted at age 16 and 18, with both patients being diagnosed subsequently as schizophrenic. Gross neurological deficits were observed 2 and 13 years, respectively, after the appearance of psychiatric symptoms. A deficit in spatial relationships may be a very sensitive early indicator of adult metachromatic leukodystrophy.
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PMID:Clinical course of adult metachromatic leukodystrophy presenting as schizophrenia. A report of two living cases in siblings. 2 78

Multiple deficiency disorder fibroblasts cultured in MEM-CO2 showed deficiencies of arylsulfatase A(ARS A) comparable to the deficiency in metachromatic leukodystrophy fibroblasts. However, the MSDD fibroblasts cultured in MEM-HEPES contained near normal levels of ARS A. Moreover, the enzyme from the latter fibroblasts was indistinguishable from ARS A of control fibroblasts on DEAE-cellulose chromatography, ratio of activity with several substrates, thermal inactivation, sensitivity to inhibitors, and precipitation by antiserum to human ARS A. These data support the conclusion that the ARS A genome is intact in MSDD fibroblasts and, by extension, in MSDD patients. Other sulfatases were present at levels ranging from mildly deficient to near normal but never as low as seen in the corresponding specific sulfatase deficient disorders.
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PMID:Presence of arylsulfatase A (ARS A) in multiple sulfatase deficiency disorder fibroblasts. 2 85

Soluble arylsulfatase (EC 3.1.6.1) is present in the body fluids of man in the form of two isoenzymes, arylsulfatase A and B, which reportedly are useful biochemical markers for certain types of malignancy. However, rapid assay of the individual isoenzymes is extremely difficult; procedures based on differential inhibition or activation of the isoenzymes in a mixture yield only semiquantitative results. A feature of these isoenzymes is their inhibition by some common anions (notably phosphate) at physiologic concentrations. The isoenzymes can be separated by anion-exchange chromatography, the B isoenzyme being eluted in the void volume and the A isoenzyme and the anionic inhibitors retarded. Lead is used to sequester phosphate, enabling measurement of A in the salt-eluted fraction. Using this technique, we have found significant elevations of B in the sera of patients with colorectal cancer. The potential of rapid, chromatographic separation coupled with continuous monitoring for arylsulfatase activity is discussed.
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PMID:Separation and analysis of arylsulfatase isoenzymes in body fluids of man. 2 85

Human fetal tissues derived from prostaglandin-induced abortuses (9--18 wk fertilization age) have been utilized to evaluate sphingolipid composition and catabolism. Sphingolipid composition (lipid-hexose, sulfatide, and lipid-bound NANA) was assessed in fetal brain. Sphingolipid catabolism was evaluated in fetal lung and brain through the measurement of relevant acid hydrolases (arylsulfatase A, beta-galactosidase, and hexosaminidase). During the fetal period studied, the parameters of sphingolipid composition revealed variability but no consistent pattern of change. Each acid hydrolase was readily detected. Enzyme specific activities revealed no variation during the 9 fetal wk studied. Cellulose acetate electrophoresis yielded the anticipated isoenzyme patterns for each acid hydrolase with little variation during the period of study. The compositional values support current concepts of cerebral development during this period of fetal life. Together with the catabolic analyses, these studies provide normative data relative to the assessment of metabolic abnormalities during this period of fetal development.
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PMID:Sphingolipid composition and catabolism in human fetal tissues. 3 Dec 73


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