Patient’s serum biochemistry index
| Metabolic profiling | Index | Normal range |
|---|---|---|
| Blood biochemistry | ||
| Urea | 7.20 mmol/L | 1.3–5.9 mmol/L |
| Creatinine | 71.1 mmol/L | 10–33 mmol/L |
| Aspartate transaminase (AST) | 142.4 U/L | 19–61 U/L |
| C-reactive protein (CRP) | 0.85 mg/L | < 6.0 mg/L |
| Mass spectrometry-based newborn screening (µmol/L) | ||
| Glutamic acid (Glu) | 667.74 | 137–542 |
| Leucine (Leu) | 371.43 | 46–241 |
| Lysine (Lys) | 568.72 | 116–405 |
| Phenylalanine (Phe) | 215.52 | 19–75 |
| Proline (Pro) | 271.92 | 39–221 |
| Tyrosine (Tyr) | 236.82 | 14–109 |
| Valine (Val) | 430.78 | 36–208 |
| Free carnitine (C0) | 32.73 | 8.5–59 |
| Acetylcarnitine (C2) | 84.11 | 4.5–52 |
| 3-hydroxy butyrylcarnitine (C4-OH) | 0.78 | 0.0–0.33 |
| Glutarylcarnitine (C5-DC) | 0.87 | 0.0–0.25 |
| Hexanoylcarnitine (C6) | 0.27 | 0.0–0.18 |
| Adipylcarnitine (C6-DC) | 0.56 | 0.0–0.25 |
| Octanoylcarnitine (C8) | 0.28 | 0.0–0.21 |
| Decanoylcarnitine (C10) | 0.33 | 0.01–0.26 |
| Decenoylcarnitine (C10:1) | 0.20 | 0.0–0.18 |