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Massachusetts Metabolic Disorders Screening Program. II. Methylmalonic aciduria

J T Coulombe, V E Shih, H L Levy

    Pediatrics
    |January 1, 1981
    PubMed
    Summary

    Newborn screening for methylmalonic aciduria effectively detects methylmalonic acidemia, an inherited organic acid disorder. This screening is crucial for early intervention, improving outcomes for affected infants.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Neonatal Medicine

    Background:

    • Methylmalonic aciduria screening is part of routine metabolic disorder testing in Massachusetts.
    • Previous methods like aniline-xylose were not sensitive enough for accurate detection.

    Purpose of the Study:

    • To evaluate the effectiveness of screening for methylmalonic aciduria in neonates.
    • To determine the incidence of methylmalonic acidemia in the screened population.

    Main Methods:

    • Utilized a sensitive fast blue B stain method for urine analysis.
    • Screened 293,535 neonates over a 5 1/2-year period.

    Main Results:

    • Detected four infants with methylmalonic acidemia.
    • Observed an incidence rate of 1:48,000 for methylmalonic acidemia.

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  • Identified a benign variant in four children.
  • Some affected infants responded well to therapy, while others showed developmental delays.

    • Conclusions:

    • The fast blue B stain method is effective for detecting methylmalonic acidemia.
    • Screening for methylmalonic aciduria is a valuable addition to newborn screening programs.
    • Early detection and intervention can lead to improved clinical outcomes.