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).
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
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) 25–32
Coates, P. M., Cortner, J. A., Hoffman, M. and Brown, S. A. Acid lipase activity of human lymphocytes. Biochem. Biophys. Acta 572 (1979)225–234
Cortner, J. A., Coates, P. M., Swoboda, E. and Schnatz, J. D. Genetic variation of lysosomal acid lipase Pediatr. Res. 10 (1976) 927–932
Gatti, R., Borrone, C., Filocamo. M., Stroppiano, N., Lituania, M., Cordone, M. and Durand, P. Diagnosi prenatale delle malattie metaboliche — Esperienza relativa a 220 casi. Riv. Ital. Pediatr. 14 (1988) 196-202
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) 810–816
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. 453–473
Author information
Authors and Affiliations
Editor information
Rights and permissions
Copyright information
© 1989 SSIEM and Kluwer Academic Publishers
About this chapter
Cite this chapter
Iavarone, A., Dolfin, G., Bracco, G., Zaffaroni, M., Gallina, M.R., Bona, G. (1989). First Trimester Prenatal Diagnosis of Wolman Disease. In: Addison, G.M., Connor, J.M., Harkness, R.A., Pollitt, R.J. (eds) Studies in Inherited Metabolic Disease. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-1069-0_33
Download citation
DOI: https://doi.org/10.1007/978-94-009-1069-0_33
Publisher Name: Springer, Dordrecht
Print ISBN: 978-94-010-6970-0
Online ISBN: 978-94-009-1069-0
eBook Packages: Springer Book Archive