Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience

Scala, Iris; Concolino, Daniela; Casa, Roberto Della; Nastasi, Anna; Ungaro, Carla; Paladino, Serena; Capaldo, Brunella; Ruoppolo, Margherita; Daniele, Aurora; Bonapace, Giuseppe; Strisciuglio, Pietro; Parenti, Giancarlo; Andria, Generoso

doi:10.1186/s13023-015-0227-8

Orphanet Journal of Rare Diseases

Table 5 Phe tolerance and plasma Phe of responder patients on long-term treatment with BH4

From: Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience

Subject (#)	Phenotype	Follow-up (months)	Tolerance at 5 years of age	Tolerance before BH4 therapy	Tolerance on BH4 therapy	Median plasma Phe pre-BH4 ^§ (10 th -90 th centile)	Median plasma Phe on BH4 (10 th -90 th centile)
1	cPKU	80	280	280	1180	552 (120-588)	492 (276-600) ^NS
2	cPKU	60	325	325	1010	240 (180-300)	480 (246-522)*
Mean			302.5	302.5	1095
Median (10 th -90 th centile)						426 (210-780)	492 (300-600) ^NS
3	moPKU	84	400	786	1386	360 (180-570)	468 (384-600) ^NS
4	moPKU	80	360	1335	4185	780 (370-900)	140 (102-170)*
5	moPKU	79	395	1228	4000	366 (100-444)	312 (180-354)*
6	moPKU	66	385	711	1611	150 (100-174)	258 (90-282)**
Mean ± SD			385 ± 17*	1015 ± 312*	2795.5 ± 1502
Median (10 th -90 th centile)						310 (90-756)	495 (180-780)**
7	mPKU	80	505	1321	3800	246 (120-318)	540 (240-660)**
8	mPKU	75	450	1995	4700	174 (140-222)	228 (126-360)^NS
9	mPKU	75	550	3187	5000	510 (330-570)	560 (372-600)^NS
10	mPKU	60	410	817	2392	204 (130-378)	450 (348-600)**
11	mPKU	12	440	440	1188	162 (100-300)	600 (400-660)**
12	mPKU	60	410	1328	2278	100 (60-180)	456 (360-600)**
13	mPKU	61	410	1133	3000	840 (300-1080)	516 (264-600)^NS
14	mPKU	61	440	978	1950	426 (200-540)	402 (216-540)^NS
Mean ± SD			451 ± 50.7**	1400 ± 851*	3038 ± 1351
Median (10 th -90 th centile)						240 (90-660)	534 (200-780)**
17	mHPA	84	1500	2658	5000	534 (360-540)	250 (170-300)**
18	mHPA	80	650	1342	4000	246 (120-360)	480 (360-600)^NS
19	mHPA	72	1920	3187	4500	540 (420-600)	360 (270-600)*
Mean ± SD			1356 ± 637**	2395 ± 950*	4500 ± 500
Median (10 th -90 th centile)						468 (204-570)	432 (210-600)^NS
*Overall* (Mean ± SD)			583 ± 443**	1627 ± 988**	2798 ± 1568
*Overall* Median (10 th -90 th centile)						320 (130-730)	490 (198-770)**

^§Calculated from Phe concentrations (micromol/L) of the 5 years preceding the start of BH4 therapy; Wilcoxon Z-test was used for intrasubject analysis; Mann-Whitney U-test was used to compare patients’ groups. *p < 0.05; **p < 0.01, NS: not significant. Tolerance (mg Phe/day) on BH4 was compared to both tolerance calculated at 5 years of age and tolerance before BH4 therapy for patients # 3, 4, 5, 6, 7, 8, 9, 10, 12, 13, 14, 17, 18, 19 (see Tables 1 and 2). For patients # 1, 2 and 11, tolerance pre-BH4 was consistent with tolerance at 5 years of age. For the cPKU group (only two patients), no statistical analysis is given for tolerance.

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ISSN: 1750-1172

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