A Rapid Screening Test for the Detection of Congenital Methylmalonic Aciduria in Infancy

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Abstract
Giorgio, Anthony J., and Luhby, A. Leonard: A rapid screening test for the detection of congenital methylmalonic aciduria in infancy. Techn. Bull. Regist. Med. Techn., 39: 180–185, 1969. A rapid and simple urine screening test, employing a diazo reaction, is described for the detection of the inborn error of metabolism methylmalonic aciduria. The high urinary methylmalonate concentrations (3 to 6 Gm. per 1.) found in this disease allow for direct qualitative assay. In the test a green color is produced by methylmalonate when present in urine at concentrations above 1 to 1.2 Gm. per 1. Only malonic and ethylmalonic acids produced a similar green color; however, these acids are found in urine in only trace amounts. Other urinary constituents, as well as a number of drugs,were studied with respect to the production of interfering color in the test. It is hoped that this test will provide a means for the widespread screening of infants for the early detection of this disorder.

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