Skip to main content
NCBI home page
Archives of Disease in Childhood logoLink to Archives of Disease in Childhood
. 1972 Feb;47(251):26–33. doi: 10.1136/adc.47.251.26

Gut Lesions in Fabry's Disease Without a Rash

D M Flynn, B D Lake, C B Boothby, Elisabeth P Young
PMCID: PMC1648012  PMID: 5018655

Abstract

Twin boys with Fabry's disease and 6 affected relatives were described. Limb pains and retinal vessel tortuosity were present but no patient had angiokeratomata. One boy had a severe enteropathy with small and large bowel involvement which was investigated. Thin-layer chromatography showed that excesses of ceramide di- and trihexosides were excreted in the urine. Leucocyte α-galactosidase activity was measured: hemizygous males showed very low activity, while obligate and probable heterozygous females had values intermediate between those of the patients and the normal controls.

Full text

PDF
26

Images in this article

27FIG. 1a and b.
on p.27
27FIG. 2.
on p.27
28FIG. 3.
on p.28
28FIG. 4.
on p.28
30FIG. 6.
on p.30

Selected References

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

  1. Brady R. O., Gal A. E., Bradley R. M., Martensson E., Warshaw A. L., Laster L. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med. 1967 May 25;276(21):1163–1167. doi: 10.1056/NEJM196705252762101. [DOI] [PubMed] [Google Scholar]
  2. Burda C. D., Winder P. R. Angiokeratoma corporis diffusum universale (Fabry's disease) in female subjects. Am J Med. 1967 Feb;42(2):293–301. doi: 10.1016/0002-9343(67)90027-7. [DOI] [PubMed] [Google Scholar]
  3. CAMPBELL A. M., HALFORD M. E. SYNDROME OF DIARRHOEA AND PERIPHERAL NERVE CHANGES DUE TO GENERALIZED VASCULAR DISEASE. Br Med J. 1964 Dec 12;2(5423):1509–1510. doi: 10.1136/bmj.2.5423.1502-b. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. CURRY H. B., FLEISHER T. L. Angiokeratoma corporis diffusum--a case report. JAMA. 1961 Mar 11;175:864–868. doi: 10.1001/jama.1961.03040100028008. [DOI] [PubMed] [Google Scholar]
  5. Clarke J. T., Knaack J., Crawhall J. C., Wolfe L. S. Ceramide trihexosidosis (fabry's disease) without skin lesions. N Engl J Med. 1971 Feb 4;284(5):233–235. doi: 10.1056/NEJM197102042840503. [DOI] [PubMed] [Google Scholar]
  6. Dawson G., Stein A. O. Lactosyl ceramidosis: catabolic enzyme defect of glycosphingolipid metabolism. Science. 1970 Oct 30;170(3957):556–558. doi: 10.1126/science.170.3957.556. [DOI] [PubMed] [Google Scholar]
  7. Dempsey H., Hartley M. W., Carroll J., Balint J., Miller R. E., Frommeyer W. B., Jr Fabry's disease (angiokeratoma corporis diffusum): case report on a rare disease. Ann Intern Med. 1965 Dec;63(6):1059–1068. doi: 10.7326/0003-4819-63-6-1059. [DOI] [PubMed] [Google Scholar]
  8. FONE D. J., KING W. E. ANGIOKERATOMA CORPORIS DIFFUSUM (FABRY'S SYNDROME). Australas Ann Med. 1964 Nov;13:339–348. doi: 10.1111/imj.1964.13.4.339. [DOI] [PubMed] [Google Scholar]
  9. HAMBURGER J., DORMONT J., DEMONTERA H., HINGLAIS N. SUR UNE SINGULI'ERE MALFORMATION FAMILIALE DE L''EPITH'ELIUM R'ENAL. Schweiz Med Wochenschr. 1964 Jun 27;94:871–876. [PubMed] [Google Scholar]
  10. Jensen E. On the pathology of angiokeratoma corporis diffusum (Fabry). Acta Pathol Microbiol Scand. 1966;68(3):313–331. doi: 10.1111/apm.1966.68.3.313. [DOI] [PubMed] [Google Scholar]
  11. Johnston A. W., Weller S. D., Warland B. J. Angiokeratoma corporis diffusum. Some clinical aspects. Arch Dis Child. 1968 Feb;43(227):73–79. doi: 10.1136/adc.43.227.73. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Kemp G. L. Fabry's disease involving the myocardium and coronary arteries; without skin manifestations. Vasc Dis. 1967 Apr;4(2):100–106. [PubMed] [Google Scholar]
  13. Kint J. A. Fabry's disease: alpha-galactosidase deficiency. Science. 1970 Feb 27;167(3922):1268–1269. doi: 10.1126/science.167.3922.1268. [DOI] [PubMed] [Google Scholar]
  14. Kocen R. S., Thomas P. K. Peripheral nerve involvement in Fabry's disease. Arch Neurol. 1970 Jan;22(1):81–88. doi: 10.1001/archneur.1970.00480190085014. [DOI] [PubMed] [Google Scholar]
  15. Loeb H., Jonniaux G., Tondeur M., Danis P., Grégoire P. E., Wolff P. Etude clinique, biochimique et ultrastructurelle de la maladie de Fabry chez l'enfant. Helv Paediatr Acta. 1968 Jun;23(3):269–286. [PubMed] [Google Scholar]
  16. Marshall W. A., Tanner J. M. Variations in the pattern of pubertal changes in boys. Arch Dis Child. 1970 Feb;45(239):13–23. doi: 10.1136/adc.45.239.13. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Opitz J. M., Stiles F. C., Wise D., Race R. R., Sanger R., Von Gemmingen G. R., Kierland R. R., Cross E. G., De Groot W. P. The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus. Am J Hum Genet. 1965 Jul;17(4):325–342. [PMC free article] [PubMed] [Google Scholar]
  18. Philippart M., Sarlieve L., Manacorda A. Urinary glycolipids in Fabry's disease. Their examination in the detection of atypical variants and the pre-symptomatic state. Pediatrics. 1969 Feb;43(2):201–206. [PubMed] [Google Scholar]
  19. Rae A. I., Lee J. C., Hopper J., Jr Clinical and electron microscopic studies of a case of glycolipid lipoidosis (Fabry's disease). J Clin Pathol. 1967 Jan;20(1):21–27. doi: 10.1136/jcp.20.1.21. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Sandhoff K. Variation of beta-N-acetylhexosaminidase-pattern in Tay-Sachs disease. FEBS Lett. 1969 Aug;4(4):351–354. doi: 10.1016/0014-5793(69)80274-7. [DOI] [PubMed] [Google Scholar]
  21. Sweeley C. C., Snyder P. D., Jr, Griffin C. E. Chemistry of glycosphingolipids Fabry's disease. Chem Phys Lipids. 1970 Aug;4(3):393–408. doi: 10.1016/0009-3084(70)90038-1. [DOI] [PubMed] [Google Scholar]
  22. VAN WAYJEN R. G. Entero-colitis als symptoom van angiokeratoma corporis diffusum (thesaurismosis Ruiter-Pompen-Wyers-Kühnau). Ned Tijdschr Geneeskd. 1958 Sep 27;102(39):1941–1943. [PubMed] [Google Scholar]
  23. WISE D., WALLACE H. J., JELLINEK E. H. Angiokeratoma corporis diffusum. A clinical study of eight affected families. Q J Med. 1962 Apr;31:177–206. [PubMed] [Google Scholar]

Articles from Archives of Disease in Childhood are provided here courtesy of BMJ Publishing Group

RESOURCES