Skip to main content
PMC home page
Journal of Clinical Pathology logoLink to Journal of Clinical Pathology
. 1977 Mar;30(3):278–283. doi: 10.1136/jcp.30.3.278

Fucosidosis in a native-born Briton.

P P Dos Santos, R W Logan
PMCID: PMC476373  PMID: 845276

Abstract

This investigation reports the biochemical findings in a native-born Briton suffering from the adult form of fucosidosis. Alpha-L-fucosidase, alpha-L-iduronidase, and beta-D-galactosidase were studied in cultured fibroblast and leucocytes from the patient with fucosidosis, her maternal grandfather, and several normal controls. A complete lack of alpha-L-fucosidase activity was found in the patient's fibroblasts and leucocytes while the grandfather exhibited a heterozygous level of alpha-L-fucosidase activity in his leucocytes. Excessive excretion of what is very likely to be a fucose-containing sphingolipid was demonstrated in the patient's urine by thin-layer chromatography. Compared with five isoenzyme forms of alpha-L-fucosidase activity in normal leucocytes, cellulose acetate electrophoresis of the patient's leucocytes produced evidence of a single band of slight activity associated with one of the isoenzymes. This residual activity probably accounts for the survival of such patients into adolescence and beyond.

Full text

PDF
278

Images in this article

281Image
on p.281

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Alhadeff J. A., Miller A. L., Wenger D. A., O'Brien J. S. Electrophoretic forms of human liver alpha-L-fucosidase and their relationship to fucosidosis (mucopolysaccharidosis F). Clin Chim Acta. 1974 Dec 17;57(3):307–313. doi: 10.1016/0009-8981(74)90412-4. [DOI] [PubMed] [Google Scholar]
  2. Beratis N. G., Turner B. M., Weiss R., Hirschhorn K. Arylsulfatase B deficiency in Maroteaux-Lamy syndrome: Cellular studies and carrier identification. Pediatr Res. 1975 May;9(5):475–480. doi: 10.1203/00006450-197505000-00003. [DOI] [PubMed] [Google Scholar]
  3. Borrone C., Gatti R., Trias X., Durand P. Fucosidosis: clinical, biochemical, immunologic, and genetic studies in two new cases. J Pediatr. 1974 May;84(5):727–730. doi: 10.1016/s0022-3476(74)80019-3. [DOI] [PubMed] [Google Scholar]
  4. Duncan D. M., Logan R. W., Ferguson-Smith M. A., Hall F. The measurement of acid mucopolysaccharides (glycosaminoglycans) in amniotic fluid and urine. Clin Chim Acta. 1973 Apr 19;45(1):73–83. doi: 10.1016/0009-8981(73)90147-2. [DOI] [PubMed] [Google Scholar]
  5. Durand P., Borrone C., Della Cella G. Fucosidosis. J Pediatr. 1969 Oct;75(4):665–674. doi: 10.1016/s0022-3476(69)80464-6. [DOI] [PubMed] [Google Scholar]
  6. Gatti R., Borrone C., Trias X., Durand P. Letter: Genetic heterogeneity in fucosidosis. Lancet. 1973 Nov 3;302(7836):1024–1024. doi: 10.1016/s0140-6736(73)91112-4. [DOI] [PubMed] [Google Scholar]
  7. Hall C. W., Neufeld E. F. Alpha-L-iduronidase activity in cultured skin fibroblasts and amniotic fluid cells. Arch Biochem Biophys. 1973 Oct;158(2):817–821. doi: 10.1016/0003-9861(73)90577-8. [DOI] [PubMed] [Google Scholar]
  8. Humbel R., Collart M. Oligosaccharides in urine of patients with glycoprotein storage diseases. I. Rapid detection by thin-layer chromatography. Clin Chim Acta. 1975 Apr 16;60(2):143–145. doi: 10.1016/0009-8981(75)90119-9. [DOI] [PubMed] [Google Scholar]
  9. Kampine J. P., Brady R. O., Kanfer J. N., Feld M., Shapiro D. Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood. Science. 1967 Jan 6;155(3758):86–88. doi: 10.1126/science.155.3758.86. [DOI] [PubMed] [Google Scholar]
  10. Kousseff B. G., Beratis N. G., Danesino C., Hirschhorn K. Letter: Genetic heterogeneity in fucosidosis. Lancet. 1973 Dec 15;2(7842):1387–1388. doi: 10.1016/s0140-6736(73)93352-7. [DOI] [PubMed] [Google Scholar]
  11. LOWRY O. H., ROSEBROUGH N. J., FARR A. L., RANDALL R. J. Protein measurement with the Folin phenol reagent. J Biol Chem. 1951 Nov;193(1):265–275. [PubMed] [Google Scholar]
  12. Loeb H., Tondeur M., Jonniaux G., Mockel-Pohl S., Vamos-Hurwitz E. Biochemical and ultrastructural studies in a case of mucopolysaccharidosis "F" (fucosidosis). Helv Paediatr Acta. 1969 Oct;24(5):519–537. [PubMed] [Google Scholar]
  13. MacPhee G. B., Logan R. W., Primrose D. A. Fucosidosis: How many cases undetected? Lancet. 1975 Sep 6;2(7932):462–463. doi: 10.1016/s0140-6736(75)90883-1. [DOI] [PubMed] [Google Scholar]
  14. Matsuda I., Arashima S., Anakura M., Ege A., Hayata I. Fucosidosis. Tohoku J Exp Med. 1973 Jan;109(1):41–48. doi: 10.1620/tjem.109.41. [DOI] [PubMed] [Google Scholar]
  15. Matsuda I., Arashima S., Oka Y., Mitsuyama T., Ariga S. Prenatal diagnosis of fucosidosis. Clin Chim Acta. 1975 Aug 18;63(1):55–60. doi: 10.1016/0009-8981(75)90378-2. [DOI] [PubMed] [Google Scholar]
  16. Patel V., Watanabe I., Zeman W. Deficiency of alpha-L-fucosidase. Science. 1972 Apr 28;176(4033):426–427. doi: 10.1126/science.176.4033.426. [DOI] [PubMed] [Google Scholar]
  17. Primrose D. A. Mucopolysaccharidosis: a new variant? J Ment Defic Res. 1972 Sep-Dec;16(3):167–172. doi: 10.1111/j.1365-2788.1972.tb01173.x. [DOI] [PubMed] [Google Scholar]
  18. Robinson D., Thorpe R. Human liver alpha-L-fucosidases. Clin Chim Acta. 1973 Sep 14;47(3):403–407. doi: 10.1016/0009-8981(73)90273-8. [DOI] [PubMed] [Google Scholar]
  19. Thorpe R., Robinson D. Isoelectric focusing of isoenzymes of human liver alpha-L-fucosidase. FEBS Lett. 1975 Jun 1;54(1):89–92. doi: 10.1016/0014-5793(75)81076-3. [DOI] [PubMed] [Google Scholar]
  20. Turner B. M., Beratis N. G., Turner V. S., Hirschhorn K. Isozymes of human alpha-L-fucosidase detectable by starch gel electrophoresis. Clin Chim Acta. 1974 Nov 20;57(1):29–35. doi: 10.1016/0009-8981(74)90174-0. [DOI] [PubMed] [Google Scholar]
  21. Van Hoof F., Hers H. G. Mucopolysaccharidosis by absence of alpha-fucosidase. Lancet. 1968 Jun 1;1(7553):1198–1198. doi: 10.1016/s0140-6736(68)91895-3. [DOI] [PubMed] [Google Scholar]
  22. Van Hoof F., Hers H. G. The abnormalities of lysosomal enzymes in mucopolysacc- haridoses. Eur J Biochem. 1968 Dec;7(1):34–44. doi: 10.1111/j.1432-1033.1968.tb19570.x. [DOI] [PubMed] [Google Scholar]
  23. Voelz C., Tolksdorf M., Freitag F., Spranger J. Fucosidose. Monatsschr Kinderheilkd. 1971 Jul;119(7):352–355. [PubMed] [Google Scholar]
  24. Westwood A., Raine D. N. Separation of three isoenzymes of N-acetyl-beta-D-hexosaminidase from human tissues by cellulose acetate membrane electrophoresis. J Clin Pathol. 1974 Nov;27(11):913–915. doi: 10.1136/jcp.27.11.913. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. Wiederschain G. Y., Kolibaba L. G., Rosenfeld E. L. Human alpha-L-fucosidases. Clin Chim Acta. 1973 Jul 14;46(3):305–310. doi: 10.1016/0009-8981(73)90185-x. [DOI] [PubMed] [Google Scholar]
  26. Zielke K., Okada S., O'Brien J. S. Fucosidosis: diagnosis by serum assay of alpha-L-fucosidase. J Lab Clin Med. 1972 Jan;79(1):164–169. [PubMed] [Google Scholar]

Articles from Journal of Clinical Pathology are provided here courtesy of BMJ Publishing Group

RESOURCES