Skip to main content
SpringerLink
Log in

Arylsulphatase C activity in leukocytes of patients and carriers of X-linked ichthyosis

  • Published:
Journal of Inherited Metabolic Disease

Abstract

In Triton X-100 solubilized leukocytes of 17 patients and 8 obligate carriers of X-linked recessive ichthyosis (XLI) the activity of arylsulphatase C (ASC) was determined and expressed as the ratio to β-galactosidase activity. The ASC/β-gal ratio of XLI patients is markedly decreased (range 0.07–0.48) in comparison to the corresponding control group of males (range 1.3–2.7). The enzyme ratios of 8 obligate carriers of XLI are decreased (range 0.90–1.9) in comparison to the normal females (2.13–5.52). These results indicate that the determination of the enzyme ratio of ASC/β-gal in Triton X-100 solubilized leukocytes is a sensitive test for biochemical identification of patients and probably of carriers of XLI.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Beratis, N. C., Turner, B. M. and Hirschhorn, K. Fucosidosis: detection of the carrier state in peripheral blood leukocytes.J. Pediatr. 87 (1975) 1193–1198

    Google Scholar 

  • Broadhead, D. M., Bain, A. D., Follett, G. F. and Johnston, A. W. Steroid sulphatase and arylsulfatase C in X-linked ichthyosis.J. Inher. Metab. Dis. 5, Suppl. 1 (1982) 55–56

    Google Scholar 

  • Chance, P. F. and Gartler, S. M. Evidence for a dosage effect at the X-linked steroid sulfatase locus in human tissues.Am. J. Hum. Genet. 35 (1983) 234–240

    Google Scholar 

  • Epstein, E. H. and Leventhal, M. E. Steroid sulfatase of human leukocytes and epidermis and the diagnosis of recessive X-linked ichthyosis.J. Clin. Invest. 67 (1981) 1257–1262

    Google Scholar 

  • Immken, L. D., Mohandas, T., Sparkes, R. S. and Shapiro, L. J. The steroid sulfatase locus on structurally abnormal inactive X-chromosomes is expressed.Am. J. Hum. Genet. 38 (1984) 979–986

    Google Scholar 

  • Lowry, O. H., Rosenbrough, N. J., Farr, A. L. and Randall, R. J. Protein measurement with the Folin phenol reagent.J. Biol. Chem. 193 (1951) 265–275

    Google Scholar 

  • Lykkesfeldt, G., Bock, J. E. and Lykkesfeldt, A. E. Sex specific difference in placental steroid sulphatase activity.Lancet 2 (1981) 255–256

    Google Scholar 

  • Lykkesfeldt, G., Lykkesfeldt, A. E. and Skakkebaek, N. E. Steroid sulphatase in man: a non-inactivated X-locus with partial gene dosage compensation.Hum. Genet. 65 (1984) 355–357

    Google Scholar 

  • Meyer, J. Ch. Sulfatasemangel bei X-chromosomal recessiv vererbter Ichthyosis vulgaris: biochemische, histochemische und genetische Aspekte.Zentralbl. Haut-Geschlechtskrankh. 144 (1980) 261–267

    Google Scholar 

  • Meyer, J. Ch., Croh, V., Giger, V., Weise, H., Varbelow, H. and Schnyder, U. W. Rapid laboratory diagnostic of X-linked ichthyosis.Dermatologica 164 (1982) 249–257

    Google Scholar 

  • Meyer, J. Ch., Weise, H., Gundermann, H. P., Würsch, T. G. and Schnyder, U. W. Deficiency of arylsulfatase C in cultured skin fibrobasts of X-linked ichthyosis.Humangenetik 53 (1979) 115–116

    Google Scholar 

  • Müller, C. R., Migl, B., Traupe, H. and Ropers, H. H. X-linked steroid sulfatase: evidence for different gene-dosage in males and females. Hum. Genet. 54 (1980) 197–199

    Google Scholar 

  • Müller, C. R., Traupe, H., Happle, R., Mevorah, B. and Ropers, H. H. Steroid sulfatase activity in patients and homo- and heterozygous carriers of X-linked ichthyosis.Arch. Dermatol. Forsch. 270 (1981) 238–239

    Google Scholar 

  • Shapiro, L. J. Steroid sulfatase deficiency and the genetics of the short arm of the human X-chromosome.Adv. Hum. Genet. 14 (1985) 331–381

    Google Scholar 

  • Vogel, W., Grompe, M., Storz, R. and Pentz, S. A comparative study on steroid sulfatase and arylsulfatase C in fibroblast clones from 45, X/47, XXX and 69, XXY.Hum. Genet. 66 (1984) 367–369

    Google Scholar 

  • Voss, M., Herrmann, F. H., Grimm, U., Wulff, K. and Wolf, K. Arylsulfatase C-Aktivität in Leukozyten — ein Parameter zur Differential- und Carrier-diagnostik bei X-chromosomal rezessiver Ichthyosis (XRI). (In press)

  • Wieacker, P., Davies, K. E., Mevorah, B. and Ropers, H. H. Linkage studies in a family with X-linked recessive ichthyosis employing a cloned DNA sequence from the distal short arm of the X-chromosome.Hum. Genet. 63 (1983) 113–116

    Google Scholar 

  • Zschiesche, M., Seidlitz, G., Grimm, U., Machill, G., Schneider, K. and Wehnert, M. Diagnostik und Differentialdiagnostik der Sphingolipidosen.Dtsch. Gesundheitswes. 38 (1983) 1552–1558

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Institut für Medizinische Genetik der Ernst-Moritz-Arndt-Universität Greifswald, Fleischmannstrasse 42/44, 2200, Greifswald, DDR

    F. H. Herrmann & U. Grimm

  2. Klinik und Poliklinik für Hautkrankheiten der Medizinischen Akademie Erfurt, Klement-Gottwald-Strasse 34, 5082, Erfurt, DDR

    J. Hadlich

Authors
  1. F. H. Herrmann
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. U. Grimm
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. J. Hadlich
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Herrmann, F.H., Grimm, U. & Hadlich, J. Arylsulphatase C activity in leukocytes of patients and carriers of X-linked ichthyosis. J Inherit Metab Dis 10, 89–94 (1987). https://doi.org/10.1007/BF01799494

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF01799494

Keywords

Search

Navigation