From: Propionic acidemia identified in twin siblings conceived by in vitro fertilization (IVF) with parents who were unknown carriers of a PCCA mutation
Case
MS/MS (blood)
C0 (10–50 μmol/L)
C3 (0–3.1 μmol/L)
C3/C2 (0.02–0.25)
C3/C0 (0.01–0.24)
Girl
6.819
14.581
2.871
2.138
Boy
8.377
18.994
2.261
2.267