2,645
Views
5
CrossRef citations to date
0
Altmetric
Editorial

Therapeutic targets in homocystinuria due to cystathionine β-synthase deficiency: new European guidelines

Pages 1-3 | Received 25 Oct 2016, Accepted 08 Nov 2016, Published online: 21 Nov 2016

References

  • Carson NAJ, Neill DW. Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland. Arch Dis Childh. 1962;37:505–509.
  • Gerritsen T, Vaughn JG, Waisman HA. The identification of homocystine in the urine. Biochem Biophys Res Com. 1962;9:493–496.
  • Mudd S, Levy H, Kraus JP. Disorders of transsulphuration. Scriver CR, Beaudet A, Sly WS, et al., eds. The metabolic and molecular bases of inherited disease. 8th. New York (NY): McGraw-Hill; 2001; p. 2016–2040.
  • Morris AAM, Kozich V, Santra S, et al. Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. J Inherit Metab Dis. 2017. [Epub ahead of print].
  • The European Network and Registry for Homocystinurias and Methylating defects. European Commission Health Programme. [Cited 2016 Oct 23]. Available from: https://www.e-hod.org/
  • Mudd SH, Skovby F, Levy HL, et al. The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am J Hum Genet. 1985;37(1):1–31.
  • Yap S, Naughten E. Homocystinuria due to cystathionine beta-synthase deficiency: 25 years’ experience of a newborn screened and treated population with reference to clinical outcome and biochemical control. J Inherit Metab Dis. 1998;21(7):738–747.
  • Selhub J. Public health significance of elevated homocysteine. Food Nutr Bull. 2008;29(2 Suppl):SS116–SS125.
  • Finkelstein JD. Pathways and regulation of homocysteine metabolism in mammals. Semin Thromb Hemost. 2000;26:219–225. Review.
  • Blom HJ, Smulders Y. Overview of homocysteine and folate metabolism. J Inherit Metab Dis. 2011;34(1):75–81.
  • Smolin LA, Benevenga NJ, Berlow S. Use of betaine for the treatment of homocystinuria. J Pediatr. 1981;99(3):467–472.
  • Wilcken DE, Wilcken B, Dudman NP, et al. Homocystinuria – the effects of betaine in the treatment of patients not responsive to pyridoxine. 1983;309(8):448–453.
  • Wilcken DE, Dudman NP, Tyrrell PA. Homocystinuria due to cystathionine beta-synthase deficiency – the effects of betaine treatment in pyridoxine-responsive patients. N Engl J Med. 1985;34(12):1115–1121.
  • Huemer M, Kozich V, Rinaldo P, et al. Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines. J Inherit Metab Dis. 2015;38(6):1007–1019.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.