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Cholesterol sulphate in the microsomal sulphatase deficient placenta

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Journal of Inherited Metabolic Disease

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Abstract

Placental sulphatase deficiency (PSD) and recessive X-linked ichthyosis (RXLI) are known as a nosological entity, due to deficiency of the enzyme, steroid sulphatase. Prior studies have demonstrated high urinary excretion and some accumulation of sulphated steroids prenatally, and of accumulation of cholesterol sulphate postnatally. This study was undertaken to investigate the level of cholesterol sulphate in the sulphatase deficient placenta. Whereas cholesterol sulphate levels are elevated in blood, erythrocyte membrane and stratum corneum of patients with RXLI, cholesterol sulphate content of four investigated sulphatase deficient placentas was normal in comparison to six normal male controls and four male controls with low oestrogen excretion in the third trimester of pregnancy but with normal placental sulphatase activity. The explanation for normal cholesterol sulphate content of sulphatase deficient placentas is unknown but may be due to placental transport, rapid metabolism to other sulphated steroids or age-related differences in residual enzyme activities.

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Authors and Affiliations

  1. Department of Neonatology, University of Amsterdam, Academisch Medisch Centrum, Amsterdam, The Netherlands

    A. Marinkovic-Ilsen

  2. Dermatology Service, Veterans Administration Medical Center, San Francisco, USA

    M. L. Williams

  3. Departments of Dermatology and Pediatrics, University of California School of Medicine, San Francisco, USA

    M. L. Williams

Authors
  1. A. Marinkovic-Ilsen
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  2. M. L. Williams
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Marinkovic-Ilsen, A., Williams, M.L. Cholesterol sulphate in the microsomal sulphatase deficient placenta. J Inherit Metab Dis 7, 72–76 (1984). https://doi.org/10.1007/BF01805808

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  • DOI: https://doi.org/10.1007/BF01805808

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