Skip to main content
PMC home page
The American Journal of Pathology logoLink to The American Journal of Pathology
. 1980 Dec;101(3):657–674.

The pathology of the feline model of mucopolysaccharidosis VI.

M E Haskins, G D Aguirre, P F Jezyk, D F Patterson
PMCID: PMC1903664  PMID: 6778219

Abstract

Three cats with feline arylsulfatase-B--deficient mucopolysaccharidosis were studied by light and transmission electron microscopy. Membrane-bound cytoplasmic inclusions were present in hepatocytes, bone marrow granulocytes, vascular smooth muscle cells, and fibroblasts in skin, cornea, and cardiac valves. Central nervous system lesions were restricted to mild ventricular dilatation, perithelial cell vacuolation, and, in one animal, cord compression by vertebral exostoses. The lesions in these cats closely resembled those described in human patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

Full text

PDF
673

Images in this article

673Figure 12
on p.673
673Figure 13
on p.673
673Figure 14
on p.673
673Figure 15
on p.673
669Figure 4
on p.669
669Figure 5
on p.669
669Figure 6
on p.669
669Figure 7
on p.669
671Figure 8
on p.671
671Figure 9
on p.671
671Figure 10
on p.671
671Figure 11
on p.671
667Figure 1
on p.667
667Figure 2
on p.667
667Figure 3
on p.667

Selected References

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

  1. Avila J. L., Convit J. Inhibition of leucocytic lysosomal enzymes by glycosaminoglycans in vitro. Biochem J. 1975 Oct;152(1):57–64. doi: 10.1042/bj1520057. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Cowell K. R., Jezyk P. F., Haskins M. E., Patterson D. F. Mucopolysaccharidosis in a cat. J Am Vet Med Assoc. 1976 Aug 1;169(3):334–339. [PubMed] [Google Scholar]
  3. De Bernard B., Stagni N., Colautti I., Vittur F., Bonucci E. Glycosaminoglycans and endochondral calcification. Clin Orthop Relat Res. 1977 Jul-Aug;(126):285–291. [PubMed] [Google Scholar]
  4. Dekaban A. S., Constantopoulos G. Mucopolysaccharidosis type I, II, IIIA and V. Pathological and biochemical abnormalities in the neural and mesenchymal elements of the brain. Acta Neuropathol. 1977 Jul 15;39(1):1–7. doi: 10.1007/BF00690379. [DOI] [PubMed] [Google Scholar]
  5. Dorfman A., Matalon R. The mucopolysaccharidoses (a review). Proc Natl Acad Sci U S A. 1976 Feb;73(2):630–637. doi: 10.1073/pnas.73.2.630. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Freeman R. G. A pathological basis for the cutaneous papules of mucopolysaccharidosis II (the Hunter syndrome). J Cutan Pathol. 1977 Dec;4(6):318–328. doi: 10.1111/j.1600-0560.1977.tb00923.x. [DOI] [PubMed] [Google Scholar]
  7. Glober G. A., Tanaka K. R., Turner J. A., Liu C. K. Mucopolysaccharidosis, an unusual cause of cardiac valvular disease. Am J Cardiol. 1968 Jul;22(1):133–136. doi: 10.1016/0002-9149(68)90256-7. [DOI] [PubMed] [Google Scholar]
  8. Goldberg M. F., Scott C. I., McKusick V. A. Hydrocephalus and papilledema in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Am J Ophthalmol. 1970 Jun;69(6):969–975. doi: 10.1016/0002-9394(70)91040-8. [DOI] [PubMed] [Google Scholar]
  9. Haskins M. E., Jezyk P. F., Desnick R. J., McDonough S. K., Patterson D. F. Alpha-L-iduronidase deficiency in a cat: a model of mucopolysaccharidosis I. Pediatr Res. 1979 Nov;13(11):1294–1297. doi: 10.1203/00006450-197911000-00018. [DOI] [PubMed] [Google Scholar]
  10. Haskins M. E., Jezyk P. F., Desnick R. J., McDonough S. K., Patterson D. F. Mucopolysaccharidosis in a domestic short-haired cat--a disease distinct from that seen in the Siamese cat. J Am Vet Med Assoc. 1979 Aug 15;175(4):384–387. [PubMed] [Google Scholar]
  11. Haskins M. E., Jezyk P. F., Patterson D. F. Mucopolysaccharide storage disease in three families of cats with arylsulfatase B deficiency: leukocyte studies and carrier identification. Pediatr Res. 1979 Nov;13(11):1203–1210. doi: 10.1203/00006450-197911000-00001. [DOI] [PubMed] [Google Scholar]
  12. Hunter C. A Rare Disease in Two Brothers. Proc R Soc Med. 1917;10(SECT):104–116. [PMC free article] [PubMed] [Google Scholar]
  13. Jezyk P. F., Haskins M. E., Patterson D. F., Mellman W. J., Greenstein M. Mucopolysaccharidosis in a cat with arylsulfatase B deficiency: a model of Maroteaux-Lamy syndrome. Science. 1977 Nov 25;198(4319):834–836. doi: 10.1126/science.144321. [DOI] [PubMed] [Google Scholar]
  14. Kelly T. E. The mucopolysaccharidoses and mucolipidoses. Clin Orthop Relat Res. 1976 Jan-Feb;(114):116–133. [PubMed] [Google Scholar]
  15. Kenyon K. R., Quigley H. A., Hussels I. E., Wyllie R. G., Goldberg M. F. The systemic mucopolysaccharidoses. Ultrastructural and histochemical studies of conjunctiva and skin. Am J Ophthalmol. 1972 Jun;73(6):811–833. [PubMed] [Google Scholar]
  16. Kenyon K. R., Topping T. M., Green W. R., Maumenee A. E. Ocular pathology of the Maroteaux-Lamy syndrome (systemic mucopolysaccharidosis type VI). Histologic and ultrastructural report of two cases. Am J Ophthalmol. 1972 May;73(5):718–741. doi: 10.1016/0002-9394(72)90390-x. [DOI] [PubMed] [Google Scholar]
  17. Kint J. A., Dacremont G., Carton D., Orye E., Hooft C. Mucopolysaccharidosis: secondarily induced abnormal distribution of lysosomal isoenzymes. Science. 1973 Jul 27;181(4097):352–354. doi: 10.1126/science.181.4097.352. [DOI] [PubMed] [Google Scholar]
  18. LAGUNOFF D., ROSS R., BENDITT E. P. Histochemical and electron microscopic study in a case of Hurler's disease. Am J Pathol. 1962 Sep;41:273–286. [PMC free article] [PubMed] [Google Scholar]
  19. LUFT J. H. Improvements in epoxy resin embedding methods. J Biophys Biochem Cytol. 1961 Feb;9:409–414. doi: 10.1083/jcb.9.2.409. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Loeb H., Jonniaux G., Resibois A., Cremer N., Dodion J., Tondeur M., Gregoire P. E., Richard J., Cieters P. Biochemical and ultrastructural studies in Hurler's syndrome. J Pediatr. 1968 Dec;73(6):860–874. doi: 10.1016/s0022-3476(68)80239-2. [DOI] [PubMed] [Google Scholar]
  21. Neufeld E. F., Lim T. W., Shapiro L. J. Inherited disorders of lysosomal metabolism. Annu Rev Biochem. 1975;44:357–376. doi: 10.1146/annurev.bi.44.070175.002041. [DOI] [PubMed] [Google Scholar]
  22. Okada R., Rosenthal I. M., Scaravelli G., Lev M. A histopathologic study of the heart in gargoylism. Arch Pathol. 1967 Jul;84(1):20–30. [PubMed] [Google Scholar]
  23. Peterson D. I., Bacchus H., Seaich L., Kelly T. E. Myelopathy associated with Maroteaux-Lamy syndrome. Arch Neurol. 1975 Feb;32(2):127–129. doi: 10.1001/archneur.1975.00490440077013. [DOI] [PubMed] [Google Scholar]
  24. Pilz H., von Figura K., Goebel H. H. Deficiency of arylsulfatase B in 2 brothers aged 40 and 38 years (Maroteaux-Lamy syndrome, type B). Ann Neurol. 1979 Oct;6(4):315–325. doi: 10.1002/ana.410060405. [DOI] [PubMed] [Google Scholar]
  25. Prystowsky S. D., Maumenee I. H., Freeman R. G., Herndon J. H., Jr, Harrod M. J. A cutaneous marker in the Hunter syndrome a report of four cases. Arch Dermatol. 1977 May;113(5):602–605. [PubMed] [Google Scholar]
  26. Quigley H. A., Kenyon K. R. Ultrastructural and histochemical studies of a newly recognized form of systemic mucopolysaccharidosis. (Maroteaux-Lamy syndrome, mild phenotype). Am J Ophthalmol. 1974 Jun;77(6):809–818. doi: 10.1016/0002-9394(74)90383-3. [DOI] [PubMed] [Google Scholar]
  27. Silberberg R., Rimoin D. L., Rosenthal R. E., Hasler M. B. Ultrastructure of cartilage in the Hurler and Sanfilippo syndromes. Arch Pathol. 1972 Dec;94(6):500–510. [PubMed] [Google Scholar]
  28. Spranger J. W., Koch F., McKusick V. A., Natzschka J., Wiedemann H. R., Zellweger H. Mucopolysaccharidosis VI (Maroteaux-Lamy's disease). Helv Paediatr Acta. 1970 Oct;25(4):337–362. [PubMed] [Google Scholar]
  29. Spurr A. R. A low-viscosity epoxy resin embedding medium for electron microscopy. J Ultrastruct Res. 1969 Jan;26(1):31–43. doi: 10.1016/s0022-5320(69)90033-1. [DOI] [PubMed] [Google Scholar]

Articles from The American Journal of Pathology are provided here courtesy of American Society for Investigative Pathology

RESOURCES