Massachusetts Metabolic Disorders Screening Program. II. Methylmalonic Aciduria

[摘要] Screening neonates for methylmalonic aciduria is part of routine screening for metabolic disorders in Massachusetts. The process of urine collection by the parent and transmittal to the central screening laboratory was described in a previous publication ( Pediatrics 49:825, 1972). The primary objective of screening for methylmalonic aciduria is to detect methylmalonic acidemia, an inherited organic acid disorder. During the most recent 5½-year period when the sensitive fast blue B stain was used in the analysis, four infants with methylmalonic acidemia were detected among 293,535 screened. Additional infants and children who came to attention because of clinical illness or family study also could be readily detected. Prior to this period, 325,634 neonates had been screened with the aniline-xylose method, which proved to be not sensitive enough for the identification of methylmalonic aciduria. Some affected infants have responded well to therapy and are clinically normal while two have shown poor biochemical response and are developmentally delayed. Four children in two families appear to have a benign variant of methylmalonic acidemia. Based on these studies the observed incidence of methylmalonic acidemia in Massachusetts is 1:48,000. Screening for methylmalonic aciduria may be an appropriate addition to newborn screening programs.

[学科分类] 儿科学