Abstract
Fabry’s disease (McKusick 30150) is an X-linked lysosomal storage disorder characterized by a deficiency of α-galactosidase (EC 3.2.1.22). In affected hemizygous males, tissue glycosphingolipid deposition causes extremity pain, angiokeratomous skin lesions and corneal opacities. Death usually occurs in mid-adulthood due to renal or cardiac failure. Female carriers of the disorder may show clinical symptoms, particularly corneal verticillata (Desnick and Sweeley, 1983).
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Cooper, A., Hatton, C., Thornley, M. and Sardharwalla, I. B. Human ß-mannosidase deficiency: biochemical findings in plasma, fibroblasts, white cells and urine. J. Inher. Metab. Dis. 11 (1988) 17–29
Desnick, R. J. and Sweeley, C. C. Fabry’s disease: a-galactosidase A deficiency. In Stanbury, J. B., Wyngaarden, J. B., Fredrickson, D. S., Goldstein, J. L. and Brown, M. S. (eds.). The Metabolic Basis of Inherited Disease, 5th Edn., McGraw-Hill Inc., New York, 1983, pp. 906–944
Gartler, S. M., Gandini, E., Hutchison, H. T., Campbell, B. and Zechhi, G. Glucose-6phosphate dehydrogenase mosaicism: utilization in the study of hair follicle variegation. Ann. Hum. Genet. London 35 (1971) 1–7
Lyon, M. F. Gene action in the X—chromosome of the mouse. Nature 190 (1961) 372–373
Nwokoro, N. and Neufeld, E. F. Detection of Hunter heterozygotes by enzymatic analysis of hair roots. Am. J. Hum. Genet. 31 (1979) 42–49
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© 1989 SSIEM and Kluwer Academic Publishers
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Hatton, C.E., Cooper, A., Sardharwalla, I.B. (1989). Detection of Fabry’s Disease Carriers by Enzyme Assay of Hair Roots. 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_54
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DOI: https://doi.org/10.1007/978-94-009-1069-0_54
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