Sex Ratio in Hyperphenylalaninemia

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Abstract
To the Editor: We recently reported the identification of twice as many males as females among patients being studied in the PKU Collaborative Study.1 Of the first 90 cases ascertained through routine screening, 60 were in males, and 30 in females. In response, Knox and Kang2 have suggested that this disproportionate sex ratio may have resulted from inclusion of "some patients in addition to those with phenylketonuria." It should be noted that a concerted effort has been made in the PKU Collaborative Study to identify and eliminate hyperphenylalaninemic variants or "false-positive" results from the sample, although it is not possible . . .

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