Table 1.
Disease-specific analytes by targeted metabolomics
| Diseases | Disease-specific analytes |
|---|---|
| PKU | Phe |
| MSUD | [Leu + Ile] and Val, alloisoleucine |
| Homocystinuria | Met |
| Citrullinemia I, argininosuccinic aciduria, citrin deficiency | Cit |
| OTC deficiency, CPS1 deficiency | Cit (low) |
| Arginase deficiency | Arg |
| Tyrosinemia | Tyr |
| Systemic carnitine deficiency | C0 (low) |
| CPT1 deficiency | C0 (high) |
| Methylmalonic aciduria, propionic aciduria, cobalomanine defects | C3 |
| SCAD deficiency, IBD deficiency | C4 |
| SCHAD (HAD) deficiency, ketosis | C4-OH |
| Isovaleric acidemia | C5 |
| Glutaric aciduria type 1 | C5-DC |
| Glutaric aciduria type 2 | C4-C18 |
| Multiple carboxylase deficiency, 3-methylcrotonylglycinuria, 3-methylglutaconicaciduria I, 3-oxothiolase, HMG uria, beta-ketothiolase deficiency, biotinidase deficiency | C5-OH |
| MCAD deficiency | C6, C8-C10-C10:1 |
| VLCAD deficiency, ketosis | C12, C12:1, C14, C14:1, C14:2, C16, C18, C18:1 |
| CPT2 deficiency | C16, C18:1, C18:2 |
| TFP | C14, C14:1, C14:2, C16-OH, C16:1-OH, C18:1, C18:2 |
| LCHAD | C14, C14:1, C14:2, C16-OH, C16:1-OH, C18:1, C18:2 |
| CACT deficiency | C18:1(C18) |