From: White matter microstructural damage in early treated phenylketonuric patients
Patient code | Sex | Age | Mutation | IDC | Concurrent Phe μmol/L | Last year median Phe umol/L | Last year mean Phe umol/L | Lifetime mean Phe umol/L |
---|---|---|---|---|---|---|---|---|
P1 | Female | 8Â years | R158G/L48S | Good | 258 | 256.5 | 263 | 268 |
P2 | Female | 8.9Â years | Y206X/L348Â V | Good | 435 | 330.5 | 298 | 434 |
P3 | Male | 13.6Â years | R261Q-R176X | Good | 503 | 558.5 | 597.7 | 319 |
P11 | Female | 8 years | I65T/IVS12 + 1A > G | Good | 126 | 134 | 186.8 | 151 |
P12 | Female | 8Â years | R261Q-I65T | Good | 443 | 285 | 288.5 | 297 |
P6 | Male | 12Â years | delF39/F55Â L | Good (BH4) | 667 | 434 | 398 | 316 |
P7 | Female | 13.1Â years | R241Q- Not found | Good (BH4) | 330 | 369.5 | 383 | 309 |
P8 | Female | 13.7Â years | Y414C/K396Â M | Good (BH4) | 376 | 384 | 407 | 334 |
P9 | Female | 17.1Â years | V388Â M-P362T | Good (BH4) | 585 | 410.5 | 522 | 322 |
P4 | Male | 14.6 years | IVS8nt-7a > g-/IVS8nt + 1g > a | Poor | 1162 | 801.5 | 789 | 560 |
P5 | Male | 17.8Â years | I65T-R261X | Poor | 1016 | 852 | 837.4 | 406 |
P10 | Female | 8 years | IVS4 + 5G > T / IVS4 + 5G> | Poor | 417 | 442.5 | 436 | 351 |
P13 | Male | 9.1years | IVS10-IVS10 | Poor | 567 | 372 | 440.5 | 320 |
P14 | Male | 9.3 years | IVS4 + 5G > T/ IVS10 | Poor | 102 | 426 | 366.5 | 285 |
P15 | Male | 10.7Â years | R158Q/P281S | Poor | 198 | 427 | 390.7 | 367 |