First Trimester Prenatal Diagnosis of Wolman Disease

  • A. Iavarone
  • G. Dolfin
  • G. Bracco
  • M. Zaffaroni
  • M. R. Gallina
  • G. Bona

Abstract

Wolman disease (WD; McKusick 27800) is a rare metabolic disorder with autosomal recessive inheritance. Pathologically, it is characterized by intracellular triglyceride and cholesteryl ester storage caused by absence of lysosomal acid lipase activity. This deficiency has been demonstrated in a variety of tissues from patients affected by WD, including liver, spleen, cultured skin fibroblasts and amniotic fluid cells (Patrick and Lake, 1973; Cortner et al., 1976; Kryiakides et al., 1972), but only recently, in a few cases, in chorionic villi (Gatti et al., 1988).

Keywords

Chorionic Villus Autosomal Recessive Inheritance Culture Skin Fibroblast Cholesteryl Oleate Amniotic Fluid Cell 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. Burton, B. K., Emery, D. and Mueller, H. W. Lysosomal acid lipase in cultivated fibroblasts: characterization of enzyme activity in normal and enzymatically deficient cell lines. Clin. Chim. Acta 101 (1980) 25–32PubMedCrossRefGoogle Scholar
  2. Coates, P. M., Cortner, J. A., Hoffman, M. and Brown, S. A. Acid lipase activity of human lymphocytes. Biochem. Biophys. Acta 572 (1979)225–234Google Scholar
  3. Cortner, J. A., Coates, P. M., Swoboda, E. and Schnatz, J. D. Genetic variation of lysosomal acid lipase Pediatr. Res. 10 (1976) 927–932PubMedCrossRefGoogle Scholar
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  5. Kryiakides, E. C., Paul, B., and Balint, J. A. Lipid accumulations and acid lipase deficiency in fibroblasts from a family with Wolman’s disease, and their apparent correction in vitro. J. Lab. Clin. Med. 80 (1972) 810–816Google Scholar
  6. Patrick, A. D. and Lake, B. D. Wolman disease, In Hers G. and Van Hoof (eds.) Lysosomes and Storage Diseases. Academic Press, New York, 1973, pp. 453–473Google Scholar

Copyright information

© SSIEM and Kluwer Academic Publishers 1989

Authors and Affiliations

  • A. Iavarone
    • 1
  • G. Dolfin
    • 2
  • G. Bracco
    • 1
  • M. Zaffaroni
    • 3
  • M. R. Gallina
    • 3
  • G. Bona
    • 3
  1. 1.Ospedale Infantile Regina MargheritaTorinoItaly
  2. 2.Ospedale Ostetrico-Ginecologico S. AnnaTorinoItaly
  3. 3.Istituto di Puericultura — Clinica Pediatrica IIUniversità di TorinoItaly

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