Skip to main content
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1978 Oct;15(5):370–374. doi: 10.1136/jmg.15.5.370

A new form of Niemann-Pick disease characterised by temperature-labile sphingomyelinase.

E L Schneider, P G Pentchev, S R Hibbert, A Sawitsky, R O Brady
PMCID: PMC1013734  PMID: 216805

Abstract

A new type (F) of Niemann-Pick disease characterised by childhood onset of splenomegaly, lack of neurological involvement, and diminished sphingomyelinase activity is described. The clinical presentation and heat-labile sphingomyelinase activity of this type F Niemann-Pick disease distinguishes it from other types of Niemann-Pick disease.

Full text

PDF
370

Selected References

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

  1. Blankenship R. M., Greenburg B. R., Lucas R. N., Reynolds R. D., Beutler E. Familial sea-blue histiocytes with acid phosphatemia. A syndrome resembling Gaucher disease: the Lewis variant. JAMA. 1973 Jul 2;225(1):54–56. [PubMed] [Google Scholar]
  2. CROCKER A. C. The cerebral defect in Tay-Sachs disease and Niemann-Pick disease. J Neurochem. 1961 Apr;7:69–80. doi: 10.1111/j.1471-4159.1961.tb13499.x. [DOI] [PubMed] [Google Scholar]
  3. Callahan J. W., Khalil M., Philippart M. Sphingomyelinases in human tissues. II. Absence of a specific enzyme from liver and brain of Niemann-Pick disease, type C. Pediatr Res. 1975 Dec;9(12):908–913. doi: 10.1203/00006450-197512000-00009. [DOI] [PubMed] [Google Scholar]
  4. Epstein C. J., Brady R. O., Schneider E. L., Bradley R. M., Shapiro D. In utero diagnosis of Niemann-Pick disease. Am J Hum Genet. 1971 Sep;23(5):533–535. [PMC free article] [PubMed] [Google Scholar]
  5. Gal A. E., Brady R. O., Hibbert S. R., Pentchev P. G. A practical chromogenic procedure for the detection of homozygotes and heterozygous carriers of Niemann-Pick disease. N Engl J Med. 1975 Sep 25;293(13):632–636. doi: 10.1056/NEJM197509252931304. [DOI] [PubMed] [Google Scholar]
  6. Glaser J. H., Roozen K. J., Brot F. E., Sly W. S. Multiple isoelectric and recognition forms of human beta-glucuronidase activity. Arch Biochem Biophys. 1975 Feb;166(2):536–542. doi: 10.1016/0003-9861(75)90417-8. [DOI] [PubMed] [Google Scholar]
  7. Golde D. W., Schneider E. L., Bainton D. F., Pentchev P. G., Brady R. O., Epstein C. J., Cline M. J. Pathogenesis of one variant of sea-blue histiocytosis. Lab Invest. 1975 Oct;33(4):371–378. [PubMed] [Google Scholar]
  8. Kanfer J. N., Young O. M., Shapiro D., Brady R. O. The metabolism of sphingomyelin. I. Purification and properties of a sphingomyelin-cleaving enzyme from rat liver tissue. J Biol Chem. 1966 Mar 10;241(5):1081–1084. [PubMed] [Google Scholar]
  9. LYNN R., TERRY R. D. LIPID HISTOCHEMISTRY AND ELECTRON MICROSCOPY IN ADULT NIEMANN-PICK DISEASE. Am J Med. 1964 Dec;37:987–994. doi: 10.1016/0002-9343(64)90139-1. [DOI] [PubMed] [Google Scholar]
  10. McKusick V. A., Howell R. R., Hussels I. E., Neufeld E. F., Stevenson R. E. Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses. Lancet. 1972 May 6;1(7758):993–996. doi: 10.1016/s0140-6736(72)91159-2. [DOI] [PubMed] [Google Scholar]
  11. Sawitsky A., Rosner F., Chodsky S. The sea-blue histiocyte syndrome, a review: genetic and biochemical studies. Semin Hematol. 1972 Jul;9(3):285–297. [PubMed] [Google Scholar]
  12. Schneider E. L., Mitsui Y. The relationship between in vitro cellular aging and in vivo human age. Proc Natl Acad Sci U S A. 1976 Oct;73(10):3584–3588. doi: 10.1073/pnas.73.10.3584. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Silverstein M. N., Ellefson R. D., Ahern E. J. The syndrome of the sea-blue histiocyte. N Engl J Med. 1970 Jan 1;282(1):1–4. doi: 10.1056/NEJM197001012820101. [DOI] [PubMed] [Google Scholar]
  14. Sloan H. R., Uhlendorf B. W., Kanfer J. N., Brady R. O., Fredrickson D. S. Deficiency of sphingomyelin-cleaving enzyme activity in tissue cultures derived from patients with Niemann-Pick disease. Biochem Biophys Res Commun. 1969 Mar 10;34(5):582–588. doi: 10.1016/0006-291x(69)90777-3. [DOI] [PubMed] [Google Scholar]
  15. Tallman J. F., Brady R. O., Navon R., Padeh B. Ganglioside catabolism in hexosaminidase A-deficient adults. Nature. 1974 Nov 15;252(5480):254–255. doi: 10.1038/252254a0. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES