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Table 1 The results of MS/MS and GC/MS during the proband’s hospitalization

From: A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report

Age

MS/MS

GC/MS

 

C3 (0.5–5 μM)

C3/C2 (0.04–0.25)

Methylmalonate (0.2–3.6 (u)mol/mol creatinine)

3-Hydroxypropionate (0–1.1 (u)mol/mol creatinine)

Propionyl glycine (0 (u)mol/mol creatinine)

Methyl citrate (0–1.1 (u)mol/mol creatinine)

27 days

10.111

1.373

0.86

1654.59

162.68

196.82

39 days

/

/

0.00

9.34

0.00

28.38

  1. C3: propionyl carnitine, C2: acetyl carnitine, “/”: unknown