Table 1.
Number of patients in each CDG and serum Tf IEF profile (AR – autosomal recessive).
| CDG type | Number of patients/families | Diagnosis |
|---|---|---|
| PMM2-CDG (AR) | 17/16 | CDG type I based on Tf IEF in all (17); 9 patients diagnosed using both molecular and enzyme analysis; 7 patients diagnosed only using molecular analysis |
| ALG13-CDG (X-linked) |
4/4 | 3 patients diagnosed first using molecular analysis (WES); Tf IEF normal in 1 of them, in another, it was indicative of CDG—I, and in the third one the disialo-Tf isoform was slightly elevated; In another patient, CDG type I based on Tf IEF confirmed by molecular analysis |
| ALG1-CDG (AR) | 3/3 | CDG type I based on Tf IEF in all (3); Confirmed by molecular analysis |
| ALG3-CDG (AR) | 1/1 | CDG type I based on Tf IEF; Confirmed by molecular analysis |
| MPI-CDG (AR) | 3/2 | All diagnosed both using enzyme and molecular analysis |
| PGM1-CDG (AR) | 1/1 | Diagnosed both using enzyme and molecular analysis |
| SRD5A3-CDG (AR) | 4/3 | CDG type I based on Tf IEF in all (4); Confirmed by molecular analysis |
| DPAGT1-CDG (AR) | 1/1 | CDG type I based on Tf IEF; Confirmed by molecular analysis |
| ATP6AP1-CDG (X-linked) |
3/1 | CDG type II based on Tf IEF in all (3) Confirmed by molecular analysis |
| ATP6V0A2-CDG (AR) | 1/1 | CDG type II based on Tf IEF; Confirmed by molecular analysis |
| VMA21-CDG (X-linked) |
1/1 | CDG type II based on Tf IEF; Confirmed by molecular analysis |
| CDG-Ix | 7/7 | CDG type I based on Tf IEF |
| CDG-IIx | 4/7 | CDG type II based on Tf IEF |