Table 1.
Results for HGprt deficient subjects.
| ID | Phenotype | Genotype | Hprt (pmol/mg/h) | Gprt (pmol/mg/h) |
|---|---|---|---|---|
| BF | HRH | c.548T>C | 669.5±56.7 | 1043.8±33.4 |
| JF | HRH | c.548T>C | 123.3±9.1 | 189.3±1.9 |
| KG | HRH | c.582C>G | 185.3±13.3 | 174.7±11.7 |
| LG | HRH | c.582C>G | 47.0±2.1 | 44.7±1.2 |
| MS | HRH | c.239A>T | 396.1±16.4 | 715.4±34.6 |
| RB | HRH | c.601G>A | 94.3±2.2 | 222.1±11.1 |
| AA | HND | c.[128T>G;130G>A] | 335.1±21.6 | 786.2±39.0 |
| BT | HND | c.599G>C | 109.6±6.7 | 219.8±19.6 |
| DD | HND | c.143G>A | 640.6±41.0 | 1264.8±51.1 |
| DM | HND | g.ex2_3dup | 23.2±3.0 | 45.9±2.1 |
| EH | HND | c.500G>T | 31.6±2.4 | 72.7±4.5 |
| JGS | HND | c.212G>T | 115.5±5.4 | 149.4±5.7 |
| JR | HND | c.3G>A | 37.3±3.9 | 67.8±2.3 |
| LW | HND | c.148G>C | 23.7±0.3 | 34.2±1.3 |
| MM | HND | c.27+1G>T | 23.0±1.5 | 27.0±1.6 |
| AE | LND | g.ex1del | 13.5±1.4 | 11.6±0.6 |
| BW | LND | c.611A>G | 12.0±0.8 | 17.6±1.6 |
| CC | LND | c.140A>T | 63.6±3.0 | 153.2±8.3 |
| CH | LND | c.532+5G>A | 21.7±0.7 | 24.2±3.5 |
| DN | LND | coding region normal | 23.8±2.4 | 23.9±2.5 |
| DP | LND | c.508C>T | 13.3±2.6 | 26.7±3.8 |
| DS | LND | not available | 15.0±0.8 | 18.1±2.6 |
| ES | LND | c.580G>A | 14.2±0.3 | 22.5±1.2 |
| FD | LND | c.580G>C | 14.1±2.5 | 13.4±1.0 |
| GB | LND | c.428_432delinsAGCAAA | 16.0±1.5 | 21.8±4.0 |
| HE | LND | g.ex1del | 11.7±0.6 | 25.6±1.2 |
| JH | LND | c.532+5G>A | 14.2±0.4 | 21.9±2.6 |
| LH | LND | c.151C>T | 7.7±1.2 | 12.4±0.7 |
| LR | LND | c.27+1G>T | 13.0±0.8 | 19.8±1.2 |
| MC | LND | c.140A>G | 55.6±4.8 | 143.9±2.7 |
| MC2 | LND | c.140A>G | 62.3±4.0 | 152.7±13.7 |
| PB | LND | g.ex4del | 9.9±1.1 | 13.5±2.1 |
| TH | LND | c.151C>T | 11.9±0.8 | 13.8±1.3 |
| TS | LND | c.373_374dupTT | 14.5±0.8 | 25.4±3.0 |
| WM | LND | e3(146–147)delTTinsC | 10.7±0.6 | 23.5±1.7 |
| ZL | LND | not available | 31.6±2.9 | 65.4±3.1 |