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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