Abstract
Between August 1971 and 1973, 113,680 5-day-old newborns were screened for aminoaciduria by one-dimensional TLC using dry urine samples. Only 5 abnormal patterns were observed: Histidinuria (emia)(2), tyrosinuria (emia)(2), cystinuria (5) and dicarboxylic aminoaciduria (1). The frequency was 2.64 per 100,000 for “overflow” and 6.16 per 100,000 for “renal” aminoacidurias. From September 1973 to June 1977, 276,000 14-day-old newborns were studied. 5 additional pathological patterns were found: Argininosuccinic aciduria (emia)(3), phenylketonuria (9), dibasic aminoaciduria (1), generalized (3) and neutral (Hartnup) aminoaciduria (5). The frequency of all 10 abnormal patterns increased to 15.92 per 100,000 for “overflow” and 26.76 per 100,000 for “renal” aminoacidurias. Non-pathological aminoacidurias were found in 10.49 per 100,000 newborns. Our results agree with others regarding the frequency of pathological aminoacidurias except for tyrosinuria (emia) and dicarboxylic aminoaciduria, both found with a higher frequency in the Quebec population. We conclude that neonatal screening for aminoacidurias at 14 days of age offers a valuable back-up system for blood screening programs and permits the detection of new inborn errors of metabolism in a given population.
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