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-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
-synthase deficiency but also in a variety of other conditions.2,4,5 Cystathionine
-synthase deficiency is readily differentiated
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