TABLE 1.

Overview of Disorders Identified Through the California MS/MS Pilot Screening Program (n = 353 894 Newborns Screened)

DisordersNo. of CasesPrevalence (Screened Population)
Positive and DiagnosedNegative and Diagnosed
MCADD131 case per 27 000
SCADD181 case per 20 000
MMA/PA111 case per 32 000
LCHADD1a1 case per 354 000
GA-I11 case per 354 000
GA-II21 case per 177 000
3MCC31 case per 118 000
Argininemia11 case per 354 000
VLCADD11b1 case per 177 000
MSUD11a1 case per 177 000
Total5131 case per 6 500
  • a Not detected with the January cutoff value but detected with the revised outoff value.

  • b Additional sample also not deemed positive by the Mayo Clinic because the patient was receiving treatment.