Table 2.
Disease Spectrum of Organic Acidemias
| Organic acidemia | n | Of all cases of organic acidemia (%) | Of all confirmed cases (%) | Of all tested cases (‰) |
|---|---|---|---|---|
| MMA | 242 | 59.3 | 21.3 | 13.2 |
| PA | 55 | 13.5 | 4.8 | 3.0 |
| GA‐1 | 31 | 7.6 | 2.7 | 1.7 |
| IVA | 24 | 5.9 | 2.1 | 1.3 |
| HLCS | 24 | 5.9 | 2.1 | 1.3 |
| BTD | 16 | 3.9 | 1.4 | 0.9 |
| BKT | 8 | 2.0 | 0.7 | 0.4 |
| MCC | 3 | 0.7 | 0.3 | 0.2 |
| HMG | 3 | 0.7 | 0.3 | 0.2 |
| Malonic acidemia | 2 | 0.5 | 0.2 | 0.1 |
| Total | 408 | 100.0 | 35.9 | 22.3 |
MMA, methylmalonic acidemia; PA, propionic acidemia; GA‐1, glutaric acidemia type I; IVA, isovaleric acidemia; HLCS, holocarboxylase synthesis deficiency; BTD, biotinidase deficiency; BKT, beta‐ketothiolase deficiency; MCC, 3‐methylcrotonyl‐CoA carboxylase deficiency; HMG, 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency.