Skip to main content

Table 3 Clinical characteristics of patients

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 8 years R158G/L48S Good 258 256.5 263 268
P2 Female 8.9 years Y206X/L348 V Good 435 330.5 298 434
P3 Male 13.6 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 8 years R261Q-I65T Good 443 285 288.5 297
P6 Male 12 years delF39/F55 L Good (BH4) 667 434 398 316
P7 Female 13.1 years R241Q- Not found Good (BH4) 330 369.5 383 309
P8 Female 13.7 years Y414C/K396 M Good (BH4) 376 384 407 334
P9 Female 17.1 years V388 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 17.8 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 10.7 years R158Q/P281S Poor 198 427 390.7 367