Abstract | BACKGROUND: METHODS: RESULTS: For the first 23.5 years of the review period, the blood methionine cutoff value was 2 mg per deciliter (134 micromol per liter). Among the 2.2 million infants screened during that period, 8 with homocystinuria were identified (1:275,000). In 1990, the cutoff value was reduced to 1 mg per deciliter (67 micromol per liter). Among the 1.1 million infants screened in the subsequent 8.5 years, 7 with the disorder were identified (1:157,000). During the latter period, the specimens were collected from six of the seven infants when they were two days of age or less; five of the six had blood methionine concentrations below 2 mg per deciliter. Use of the reduced cutoff level increased the false positive rate from 0.006 percent to 0.03 percent. CONCLUSIONS: A cutoff level for blood methionine of 1 mg per deciliter in neonatal screening tests for homocystinuria should identify affected infants who have only slightly elevated concentrations of methionine and reduce the frequency of false negative results.
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Authors | M J Peterschmitt, J R Simmons, H L Levy |
Journal | The New England journal of medicine
(N Engl J Med)
Vol. 341
Issue 21
Pg. 1572-6
(Nov 18 1999)
ISSN: 0028-4793 [Print] United States |
PMID | 10564686
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
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Topics |
- False Negative Reactions
- Homocystinuria
(blood, diagnosis, epidemiology)
- Humans
- Infant, Newborn
- Methionine
(blood, metabolism)
- Neonatal Screening
(standards)
- New England
(epidemiology)
- Reference Values
- Sensitivity and Specificity
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