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D-Methioninuria Due to DL-Methionine Ingestion An Artefact Detected by a Mass Screening Program for Errors of Amino Acid Metabolism

Mary L. Efron, MD; Thomas C. McPherson, MD; Vivian E. Shih, MD; C. Franklin Welsh, MD; Robert A. MacCready, MD
Am J Dis Child. 1969;117(1):104-107. doi:10.1001/archpedi.1969.02100030106012.
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THE introduction of mass screening programs for the detection of inborn errors of metabolism1 almost inevitably reveals a variety of new artefacts which those who deal with these diseases must learn to recognize. We describe here one of these artefacts: D-methioninuria due to ingestion of Dl-methionine-fortified infant formula.

Report of a Case  The patient, the second-born of male dizygotic twins delivered in a hospital in a nearby community at 32 weeks' gestation, weighed 1,814 gm (4 lb) at birth. His brother weighed 1,561 gm (3 lb 7 ounces). The mother, a primipara, was convalescing from viral hepatitis complicated by myocarditis when spontaneous labor began. The infant spent the first three days in an incubator."Very foul stools" were noted at 4 days of age, and this was more or less persistent throughout his nursery course. After initial 5% dextrose feedings, the infant was given a cow's milk formula, and


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