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Volume 348:1604-1605 April 17, 2003 Number 16
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Population Screening

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 by Khoury, M. J.
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To the Editor: In their review article, Khoury et al. (Jan. 2 issue)1 suggest that homocystinuria should be screened for by Guthrie bacterial inhibition assay and treated with vitamin B12 and methionine restriction. Homocystinuria occurs in several conditions, including cystathionine {beta}-synthase deficiency and genetic disorders of homocysteine remethylation.2,3 Plasma total homocysteine levels may also be elevated because of folate deficiency or vitamin B12 deficiency.2 The Guthrie test, designed to detect hypermethioninemia, fails to detect abnormalities of homocysteine remethylation. Hypermethioninemia occurs not only in cystathionine {beta}-synthase deficiency but also in a variety of other conditions.2,4,5 Cystathionine {beta}-synthase deficiency is readily differentiated . . . [Full Text of this Article]




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