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Previous Volume 340:1513 May 13, 1999 Number 19 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

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To the Editor: Homocystinuria due to a deficiency of cystathionine ß-synthase has been reported to occur with a cumulative overall frequency of 1 in 344,000 worldwide, a value that ranges from 1 in 58,000 to 1 in 1,000,000 in countries that systematically screen newborns.¹ Overall, 50 percent of persons with untreated homocystinuria have a thromboembolic event before the age of 30 years, and dislocation of the lens occurs in 50 percent by the age of 8.¹ Among mutations causing cystathionine ß-synthase deficiency, the 833TC mutation² is geographically widespread. We determined the prevalence of this mutation among Danish newborns by . . . [Full Text of this Article]

References

This article has been cited by other articles:

• Refsum, H., Grindflek, A. W., Ueland, P. M., Fredriksen, A., Meyer, K., Ulvik, A., Guttormsen, A. B., Iversen, O. E., Schneede, J., Kase, B. F. (2004). Screening for Serum Total Homocysteine in Newborn Children. Clin. Chem. 50: 1769-1784 [Abstract] [Full Text]  
• Refsum, H., Smith, A. D., Ueland, P. M., Nexo, E., Clarke, R., McPartlin, J., Johnston, C., Engbaek, F., Schneede, J., McPartlin, C., Scott, J. M. (2004). Facts and Recommendations about Total Homocysteine Determinations: An Expert Opinion. Clin. Chem. 50: 3-32 [Abstract] [Full Text]  
• Peterschmitt, M. J., Simmons, J. R., Levy, H. L. (1999). Reduction of False Negative Results in Screening of Newborns for Homocystinuria. NEJM 341: 1572-1576 [Abstract] [Full Text]