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To the Editor:—
It has come to my attention that at the present time many physicians are still unaware of the simplicity with which it is possible to diagnose phenylketonuria. At the present time the early diagnosis of phenylketonuria has become a matter of more than academic interest. A diet for the therapy of this condition is now commercially available. Reports of the use of this diet are encouraging, although a definitive conclusion as to its degree of effectivness is not yet available. However, all reports indicate that, for the diet to be effective, it must be started early—probably before the end of the first year of life. The ideal time for the diagnosis to be established would be at birth. However, the abnormal urinary constituents probably do not appear much before the end of the second or third month. It is probable then that, for a routine screening procedure,
Masland RL. DIAGNOSIS OF PHENYLKETONURIA. JAMA. 1957;163(15):1389–1390. doi:10.1001/jama.1957.02970500073023
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