Table 4 Summary of glutaricaciduria type I patients carrying the GCDH c.1261G > A variant reported in literature
Patient ID | Genotype | Race | Reference |
|---|---|---|---|
GAI-054 | c.1244-2 A > C/c.1244-2 A > C/c.1261G > A | Chinese | This review |
GAI-091 | c.1244-2 A > C/c.1261G > A | Chinese | This review |
GAI-093 | c.1244-2 A > C/c.1261G > A | Chinese | This review |
GAI-094 | c.1244-2 A > C/c.1261G > A | Chinese | This review |
Patient 3 | c.1063 C > T/c.1261G > A | Chinese (in Malaysia) | Abdul et al. (2016) |
- | c.356 C > T/c.1261G > A | European | Christensen et al. (2004) |
- | c.1204 C > G/c.1261G > A | European | Christensen et al. (2004) |
Patient 3 | c.1204 C > T/c.1261G > A | American? | Guenzel et al. (2021) |
Patient 4 | c.1204 C > T/c.1261G > A | American? | Guenzel et al. (2021) |
Patient 5 | c.1204 C > T/c.1261G > A | American? | Guenzel et al. (2021) |