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)

We report two cases with ichthyosis vulgaris, hypogenitalism and hypogonadism. So far, little endocrinological information has been available on this association and the exact type of ichthyosis was unknown. Our first patient suffered from very severe hypergonadotropic hypogonadism, whereas the second patient showed normal levels of luteinizing hormone, but slightly elevated follicle stimulating hormone values. In lipoprotein electrophoresis we found fast moving beta-lipoproteins in the first patient and a normal electrophoretic mobility of pre- beta and beta-lipoproteins in the second patient. Correspondingly, steroid sulfatase (STS) testing revealed STS deficiency in the first patient and normal STS activity in the second patient, thus excluding X-linked recessive ichthyosis. These two different types in the association of ichthyosis with hypogenitalism and hypogonadism could not be discriminated by clinical, morphological and cytogenetic studies.
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PMID:Ichthyosis vulgaris with hypogenitalism and hypogonadism: evidence for different genotypes by lipoprotein electrophoresis and steroid sulfatase testing. 658 54

Although the deficiency of steroid sulfatase (STS) as well as aryl sulfatase C (ASC) activities in patients with X-linked recessive ichthyosis has been confirmed by several groups all over the world, the question whether STS = ASC is not yet completely answered. To obtain more information, Miranol H2M extracts from placental microsomes and cultured skin fibroblasts were subjected to gel permeation chromatography and polyacrylamide gel electrophoresis. STS (3H-dehydroepiandrosterone sulfate) and ASC (4-methylumbelliferone sulfate) activities were estimated in the eluted gel permeation chromatography fractions and within the same gel cylinders in half gel slices. None of these two methods allowed a separation of the two microsomal sulfatase activities. From these results and from different behavior of STS and ASC (not deficient in uncultured skin preparations of X-linked recessive ichthyosis, different kinetic properties between STS and ASC, etc.) we propose microsomal sulfatase activities to be assembled in an enzyme aggregate.
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PMID:Steroid sulfatase = aryl sulfatase C? Chromatographic and electrophoretic properties in extracts from placental microsomes and skin fibroblasts. 659 86

The combined occurrence of X-linked steroid sulfatase deficiency of the placenta and X-linked ichthyosis is reported in 6 unrelated boys. Placental steroid sulfatase deficiency was diagnosed on the basis of a very low total estrogen excretion (6 cases), verified prenatally by the dehydroepiandrosterone sulfate (DHEAS) loading test in 4 cases and postnatally by clinical investigations (6 cases) and by biochemical investigations (5 cases). In addition, microsomal arylsulfatase C (MAS) could not be detected in the placental homogenate of the five cases investigated. Lysosomal arylsulfatases were within the normal range. All boys developed well except for X-linked ichthyosis. In the 5 cases investigated the skin biopsy showed the same MAS deficiency histochemically in the granular layer of the epidermis as in the trophoblast cells. The same holds true for the skin of carriers. Steroid sulfatase activity of cultured skin fibroblasts from the boys was almost nil (3 cases). The histochemical technique offers a practical approach in the scientific investigation of keratotic conditions.
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PMID:X-linked ichthyosis and X-linked placental sulfatase deficiency: a disease entity. Histochemical observations. 692 54

Steroid sulfatase and aryl sulfatase C activities were assayed simultaneously in peripheral blood leucocytes of 4 patients with X-linked ichthyosis (XLI) and 4 patients with autosomal-dominant ichthyosis; 11 healthy subjects served as controls. The deficiency of steroid sulfatase as well as of aryl sulfatase C found in leucocytes of patients with XLI was confirmed by the histochemical demonstration of aryl sulfatase C deficiency in skin sections. Although results are obtained earlier with the histochemical method than with the biochemical assay in leucocytes, several disadvantages brought us to the conclusion that the biochemical assay of microsomal sulfatase activity in leucocytes offers a fast and safe method for the identification of patients with XLI.
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PMID:Rapid laboratory diagnostic of X-linked ichthyosis. 695 38

X-linked recessive ichthyosis (XLI) is an inherited inborn error of metabolism due to steroid sulfatase (STS) deficiency. The STS activity was studied in 13 families that were referred to the Genetic Department, General Hospital of Mexico City, as being affected by ichthyosis. The study was specially focused on five apparently on familial cases and their mothers, in order to identify carrier status and provide adequate genetic counseling. STS activity was determined in leucocytes using 7-[3H]-dehydroepiandrosterone sulfate as substrate. None of the XLI patients showed STS activity (pmol/mg protein/h), four mothers had an activity compatible with a carrier state (0.19 +/- 0.02 vs 0.66 +/- 0.14 males or 0.90 +/- 0.30 females pmol/mg protein/h, p < 0.001) and only one mother showed a normal pattern, indicating that her son had a de novo mutation. It is important to determine the STS activity in the propositus mother of apparently non familial cases of XLI to identify the carrier state and provide and accurate genetic counseling, as most of these seem to correspond to inherited cases.
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PMID:The biochemical identification of carrier state in mothers of sporadic cases of X-linked recessive ichthyosis. 754 51

The metabolism of cholesterol sulfate (CS) was investigated in immortalized, Epstein-Barr virus-transformed lymphoid cell lines derived from normal individuals and patients affected with recessive X-linked ichthyosis (XLI). Normal lymphoid cells expressed arylsulfatase C and steroid sulfatase (including cholesterol sulfatase) activities, and these two sulfohydrolases showed the same enzyme properties as in other human cells, e.g., leukocytes or skin fibroblasts. XLI-derived lymphoid cell lines exhibited extremely deficient activity of both arylsulfatase C and steroid sulfatase. While normal and XLI intact, living lymphoid cells could take up exogenous radiolabelled CS through a non-receptor-mediated process. XLI cells were completely unable to degrade CS to cholesterol. However, despite their defect in CS degradation, steroid sulfatase-deficient cells did not accumulate CS because of outflux of this sterol. The potential implications of these findings to the pathogenesis of increased CS content in plasma and epidermis of XLI patients are discussed. This study also demonstrates that immortalized lymphoid cell lines may represent a useful experimental model system for the study of XLI.
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PMID:Cholesterol sulfate is not degraded but does not accumulate in Epstein-Barr virus-transformed lymphoid cells from patients with X-linked ichthyosis. 754 38

Placental sulfatase deficiency is an X-linked metabolic defect that occurs in about 1 in 2,000 to 5,000 males. It is associated with congenital ichthyosis. In this report, the authors document a case of placental sulfatase deficiency detected during routine prenatal screening of maternal serum by the triple test: serum alpha-fetoprotein (AFP), unconjugated estriol (uE3), and human chorionic gonadotropin (hCG). At 16-weeks gestation, her AFP was 20.9 IU/mL (multiple of the median [MOM] 0.83), hCG was 14.4 mIU/L (MOM 0.42) and her uE3 was 0.01 nmol/L (MOM 0.01). The extremely low uE3 indicated a possible placental sulfatase deficiency, congenital adrenal hypoplasia, or other unknown abnormality. On receiving this information, the obstetrician obtained a family history that was consistent with ichthyosis in the maternal grandfather and his siblings. Biochemical analysis of placenta documented the lack of sulfatase activity. This case illustrates that an extremely low level of maternal uE3 should prompt investigation of the family for evidence of X-linked ichthyosis associated with placental sulfatase deficiency.
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PMID:Low maternal serum unconjugated estriol during prenatal screening as an indication of placental steroid sulfatase deficiency and X-linked ichthyosis. 772 34

Twenty-four women out of 7,875 pregnant women who enrolled in a prenatal screening program showed extremely low levels of unconjugated estriol (< 0.15 MOM). In 19 cases, intrauterine fetal death was reported. In 1 case anencephalus was detected. In the remaining 4 cases apparently normal healthy babies (1 female and 3 males) were born following uneventful pregnancies. Physical examination of the 3 boys at 4-6 weeks revealed mild ichthyosis compatible with the X-linked type. Two of them had a positive family history of X-linked ichthyosis. The examination of the girl did not reveal any significant findings. In both cases in which amniocentesis was performed, low levels of steroid sulfatase and arylsulfatase C were found. The prevalence of X-linked ichthyosis in this study is higher than previously reported, i.e. 1:1,300 males. Our results suggest that the prenatal screening program for neural tube defects and for Down's syndrome is useful for the prenatal detection of X-linked ichthyosis as well. These results are in accordance with two recent reports. The implications regarding genetic counseling are discussed.
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PMID:Very low maternal serum unconjugated estriol and prenatal diagnosis of steroid sulfatase deficiency. 779 18

To study steroid sulfatase activity in women in the field of obstetrics and gynecology, especially to differentiate carrier women with steroid sulfatase deficiency (recessive X-linked ichthyosis, RXLI) from normal women, steroid sulfatase activity was assayed in peripheral blood leukocytes from normal nonpregnant women, pregnant women, patients with RXLI, carriers of RXLI and in other normal males of different age. Steroid sulfatase activity in pmol/mg protein/min was significantly lower in patients with RXLI than in the other groups and significantly higher in the 3rd trimester pregnant women than in nonpregnant women and adult men. In addition, sulfatase activity was significantly higher in the 3rd trimester pregnant women than in fetuses. However, it was difficult to differentiate carrier women with RXLI from normal women because of considerable overlap between the two groups. The biochemical control mechanism of steroid sulfatase is the subject of further research.
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PMID:Steroid sulfatase activity in human leukocytes. 800 74

To develop an experimental model for somatic gene therapy we have tried to correct the steroid sulfatase (STS) deficiency in tissue-cultured primary epidermal keratinocytes from patients suffering from recessive X-linked ichthyosis. An efficient Epstein-Barr virus-based vector was constructed, in which full-length steroid sulfatase cDNA is located between an SV40 early promotor and processing signals. After STS gene transfer into cultured basal cells from ichthyotic skin, the cells produce large amounts of enzymatically active steroid sulfatase protein. The subpopulation of transfected cells can be made to produce approximately 100 times more STS activity than normal keratinocytes. Keratinocytes from patients suffering from recessive X-linked ichthyosis display an abnormal phenotype when developing a multilayered tissue in culture: Initially an extensive burst of keratinization is observed, followed by rapid, premature shedding and degradation of most suprabasal cell layers, leaving a culture with hyperproliferative relatively immature keratinocytes. Transfection of these immature ichthyotic cells with the functional STS construct led to an increase in the amount of retained cell material in the culture medium, indicating an increased cell maturation. It is possible to genetically label individual transfected epidermal cells with a reporter gene. Cotransfection experiments with STS and reporter gene vectors show that the cohort of transfected cells had a tendency to develop less rapidly since they became overrepresented in the smaller size classes at the same time the total population was somewhat shifted toward higher cell sizes. We interpret these results as an indication that restoration of the enzymatic activity induces a more normal maturation of the transfected keratinocytes.
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PMID:Correction of steroid sulfatase deficiency by gene transfer into basal cells of tissue-cultured epidermis from patients with recessive X-linked ichthyosis. 826 59


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