Review Article
Mass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic Acidemias
Table 2
Biomarker in OAs identified in DBS by LC-MS/MS analysis.
| | MSUD | Val ↑ | | | | Ile/leu ↑ | | |
| | PA | C3 ↑ | Gly ↑ | C3/C0; C3/C4; C3/C16 |
| | MMA mut | C3 ↑ | Gly ↑ | C3/C0; C3/C4; C3/C16 |
| | MMA CblA and B | C3 ↑ | Gly ↑ | C3/C0; C3/C4; C3/C16 |
| | MMA CblC and D | C3 ↑ | Gly ↑; Met ↑; C16:1OH ↑ | C3/C0; C3/C4; C3/C16 |
| | IVA | C5 ↑ | | |
| | GA I | C5DC ↑ | | C5DC/C4; C5DC/C8; C5DC/C12; C5DC/C3DC |
| | β-KTD | C5:1 ↑ | C5OHn/↑ | |
| | HMG-CoA lyase D | C5OH ↑ | C6DCn/↑ | |
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n means normal level, means increase.
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