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January 1969

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

Author Affiliations

From the Department of Neurology, Harvard Medical School and the Joseph P. Kennedy, Jr. Memorial Laboratories, Neurology Service, Massachusetts General Hospital, Boston (Drs. Efron, Shih, and Welsh); Mead Johnson Laboratories, Evansville, Ind (Dr. McPherson); and the Division of Diagnostic Laboratory, Bureau of Institute of Laboratories, Massachusetts Department of Public Health, Jamaica Plain, Mass (Dr. MacCready). Doctor Welsh is now with the US Air Force, Lackland AFB, San Antonio, Tex.

Am J Dis Child. 1969;117(1):104-107. doi:10.1001/archpedi.1969.02100030106012

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