Fabry's disease: alpha-galactosidase deficiency - PubMed (original) (raw)

Fabry's disease: alpha-galactosidase deficiency

J A Kint. Science. 1970.

Abstract

The leukocytes of male patients with Fabry's disease are deficient in alpha-galactosidase. The alpha-galactosidase activity in the leukocytes of female carriers of the disease is 15 to 40 percent of the amount present in normal leukocytes. The activities of beta-galactosidase, beta-acetylgalactosaminidase, and beta-acetylglucosaminidase in the leukocytes of affected individuals are normal.

PubMed Disclaimer

Similar articles

• The enzyme defect in Fabry's disease.
  Kint JA. Kint JA. Nature. 1970 Sep 12;227(5263):1173. doi: 10.1038/2271173b0. Nature. 1970. PMID: 5451124 No abstract available.
• Enzyme replacement in Fabry's disease, an inborn error of metabolism.
  Mapes CA, Anderson RL, Sweeley CC, Desnick RJ, Krivit W. Mapes CA, et al. Science. 1970 Sep 4;169(3949):987-9. doi: 10.1126/science.169.3949.987. Science. 1970. PMID: 4914726 Clinical Trial.
• [Absent renal ceramide-trihexosidase activity in Fabry's disease].
  Dubach UC, Enderlin F, Mannhart M. Dubach UC, et al. Ger Med Mon. 1969 Jan;14(1):34-5. Ger Med Mon. 1969. PMID: 5352743 Multiple languages. No abstract available.
• [Fabry's disease; towards a treatment].
  Linthorst GE, Hollak CE, Bosman DK, Heymans HS, Aerts JM. Linthorst GE, et al. Ned Tijdschr Geneeskd. 2000 Dec 9;144(50):2391-5. Ned Tijdschr Geneeskd. 2000. PMID: 11145093 Review. Dutch.
• [Early acroparesthesia in females: a sign disclosing heterozygote Fabry disease].
  Larrégue M, Trincal D, Bressieux JM, Fusade T, Tanzer J, Menguy C. Larrégue M, et al. Ann Dermatol Venereol. 1991;118(3):191-7. Ann Dermatol Venereol. 1991. PMID: 1648327 Review. French.

Cited by

• Prevalence of Fabry disease in dialysis patients: Japan Fabry disease screening study (J-FAST).
  Saito O, Kusano E, Akimoto T, Asano Y, Kitagawa T, Suzuki K, Ishige N, Akiba T, Saito A, Ishimura E, Hattori M, Hishida A, Guili C, Maruyama H, Kobayashi M, Ohashi T, Matsuda I, Eto Y. Saito O, et al. Clin Exp Nephrol. 2016 Apr;20(2):284-93. doi: 10.1007/s10157-015-1146-7. Epub 2015 Jul 22. Clin Exp Nephrol. 2016. PMID: 26197777
• Lysosome Function in Cardiovascular Diseases.
  Bhat OM, Li PL. Bhat OM, et al. Cell Physiol Biochem. 2021 May 22;55(3):277-300. doi: 10.33594/000000373. Cell Physiol Biochem. 2021. PMID: 34019755 Free PMC article. Review.
• Vestibular and auditory deficits in Fabry disease and their response to enzyme replacement therapy.
  Palla A, Hegemann S, Widmer U, Straumann D. Palla A, et al. J Neurol. 2007 Oct;254(10):1433-42. doi: 10.1007/s00415-007-0575-y. Epub 2007 Oct 15. J Neurol. 2007. PMID: 17934877 Clinical Trial.
• Experimental polymer storage disease in rabbits. An approach to the histogenesis of sphingolipidoses.
  Miyasaki K. Miyasaki K. Virchows Arch A Pathol Anat Histol. 1975;365(4):351-65. doi: 10.1007/BF00471182. Virchows Arch A Pathol Anat Histol. 1975. PMID: 803739
• Enzyme Replacement Therapy During Pregnancy in Fabry Patients : Review of Published Cases of Live Births and a New Case of a Severely Affected Female with Fabry Disease and Pre-eclampsia Complicating Pregnancy.
  Madsen CV, Christensen EI, Nielsen R, Mogensen H, Rasmussen ÅK, Feldt-Rasmussen U. Madsen CV, et al. JIMD Rep. 2019;44:93-101. doi: 10.1007/8904_2018_129. Epub 2018 Aug 17. JIMD Rep. 2019. PMID: 30117110 Free PMC article.

MeSH terms

Substances

LinkOut - more resources

• Full Text Sources

  • Atypon

• Other Literature Sources

  • The Lens - Patent Citations Database

• Medical

  • Genetic Alliance