Aldolase activity (mU/mg protein) | |||||
---|---|---|---|---|---|
Family | Proband | Genotype | F-1-P | F-1,6-P2 | F-1-P/ F-1,6-P2 activity ratio |
The two aldolase B alleles in each subject are indicated. Novel alleles are in bold. Aldolase activity towards fructose-1-phosphate (F-1-P) and fructose-1,6-bisphosphate (F-1,6-P2) was assayed in hepatic biopsies, where available, as indicated in Materials and methods. | |||||
ND, not determined. | |||||
F1 | F1.3 | A149P/Δ4E4 | ND | ND | ND |
F1.4 | A149P/Δ4E4 | ND | ND | ND | |
F2 | F2.3 | A149P/A149P | 1.8 | 10.7 | 5.9 |
F3 | F3.4 | A149P/A174D | ND | ND | ND |
F5 | F5.3 | Δ4E4/Δ4E4 | <1.0 | 6.8 | >6.8 |
F6 | F6.2 | A149P/A149P | 2.6 | 4.8 | 1.8 |
F7 | F7.4 | A149P/A149P | 2.7 | 9.4 | 3.5 |
F8 | F8.3 | A149P/Δ4E4 | 1.4 | 5.4 | 3.6 |
F8.4 | A149P/Δ4E4 | ND | ND | ND | |
F11 | F11.3 | A149P/g.4271C>G | ND | ND | ND |
F11.5 | A149P/g.4271C>G | ND | ND | ND | |
F12 | F12.3 | A149P/A149P | ND | ND | ND |
F13 | F13.4 | A149P/A149P | 2.5 | 8.4 | 3.3 |
F16 | F16.3 | A149P/Δ4E4 | ND | ND | ND |
F16.4 | A149P/Δ4E4 | ND | ND | ND | |
F17 | F17.3 | A149P/A174D | 1.1 | 10.3 | 9.2 |
F18 | F18.1 | A149P/Δ4E4 | ND | ND | ND |
F18.3 | A149P/Δ4E4 | 2.2 | 11.9 | 5.3 | |
F18.4 | A149P/A149P | ND | ND | ND | |
F19 | F19.1 | A149P/A149P | ND | ND | ND |
F19.4 | A149P/A149P | <1.0 | 7.4 | >7.4 | |
71F | 71 | A149/Δ4E4 | <1.0 | 2.6 | >2.6 |
210F | 210 | A149P/A149P | 1.5 | 7.8 | 5.2 |
468F | 468 | A149P/N334K | <1.0 | 12.2 | >12.2 |
476F | 476 | A174D/A174D | <1.0 | 10.2 | >10.2 |
529F | 529 | A149P/g.1133G>A | <1.0 | 1.8 | >1.8 |
663F | 663 | A149P/A149P | 3.0 | 7.3 | 2.4 |
717F | 717 | A149P/A149P | <1.0 | 5.5 | >5.5 |
Controls | 24.0 (SD 8.4) | 22.4 (SD 8.0) | 1.1 (SD 0.3) |