MMA

Combining newborn metabolic and DNA analysis for second- tier testing of methylmalonic acidemia

**Purpose:** Improved second-tier tools are needed to reduce false- positive outcomes in newborn screening (NBS) for inborn metabolic disorders on the Recommended Universal Screening Panel (RUSP). **Methods:** We designed an assay for multiplex …

Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns

Analysis of California newborn screening (NBS) data revealed a high prevalence of Hispanic infants testing positive for methylmalonic acidemia (MMA), a trend seen for both true- and false-positive cases. Here we show that Hispanic infants have …