Table 2.
Inborn errors of metabolism found on propionylcarnitine (C3)-positive newborn screens in Wisconsin from 2013 to 2019.
| First-Tier Testing | Second-Tier Testing | Gene Name | Mutation | ||||
|---|---|---|---|---|---|---|---|
| C3 (µM) | C3/C2 | MMA (µM) | MCA (µM) | Allele 1 | Allele 2 | ||
| Propionic Acidemia | |||||||
| 1 | 10.08 | 0.44 | 0.16 | 3.39 | PCCB | c.1606A>G | c.1606A>G |
| 2 | 9.05 | 0.29 | 0.21 | 2.12 | PCCB | c.1606A>G | c.1606A>G |
| 3 | 6.88 | 0.38 | 0.28 | 3.26 | PCCB | c.1606A>G | c.1606A>G |
| 4 | 15.05 | 0.411 | 0.14 | 2.98 | PCCB | c.1606A>G | c.1606A>G |
| 5 | 8.34 | 0.28 | 0.04 | 2.48 | PCCB | c.1606A>G | c.1606A>G |
| Methylmalonic Acidemia | |||||||
| 1 | 7.37 | 0.25 | 13.3 | 2.27 | MMUT | c.1084-10A>G | c.1084-10A>G |
| 2 | 8.74 | 0.26 | 13.1 | 1.48 | MMUT | c.1196_1197delTG | c.2026G>A |
| 3 | 9.75 | 0.22 | 2.62 | 0.57 | MMUT | c.1663G>A | c.1663G>A |
| 4 | 5.10 | 0.22 | 4.62 | 1.04 | MMUT | c.1663G>A | c.1663G>A |
| 5 | 9.39 | 0.32 | 8.87 | 0.76 | CD320 | c.262_264del | c.262_264del |
| Cobalamin C Deficiency | |||||||
| 1 | 15.77 | 0.54 | 70.6 | 5.62 | MMACHC | c.271dupA | c.271dupA |
| 2 | 9.24 | 0.38 | 35.5 | 3.7 | MMACHC | c.271dupA | c.271dupA |
| 3 | 20.91 | 0.55 | 84.2 | 6.25 | MMACHC | c.271dupA | c.271dupA |
| 4 | 11.69 | 0.4 | 48.3 | 2.61 | MMACHC | c.271dupA | c.436_450del |