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

Table 2 Patients with Phe >400 micromol/L during the pre-loading test protocol

Subject (#)	PAH Genotype	Historical tolerance *	Median plasma Phe	New Phe intake
Subject (#)	PAH Genotype	Historical tolerance *	*(10 th -90 th centile)* ^§	[Phe values]
4	R261Q/L48S	360	780 (370-900)	1335 [432; 456]
5	R261Q/P281L	395	168 (30-582)	1228 [510; 546]
6	L48S/Q301P	385	150 (100-174)	711 [492; 552]
8	L48S /D222G	450	174 (140-222)	1995 [438; 444]
9	165delT/P366H	550	510 (330-570)	3187 [590; 526]
17	R158Q/D338Y	1500	534 (360-540)	2658 [516; 486]
19	165delT/P366H	1920	540 (420-600)	3187 [516; 600]
25	R158Q/R176X	320	456 (180-864)	963 [468; 486]
39	P281L/R158Q	390	600 (318-720)	1164 [600; 582]
40	IVS10nt-11G > A/F39del(116118delTCT)	390	366 (100-444)	670 [360; 408]

Notes. *Historical tolerance (mg Phe/day) calculated at 5 years of age; ^§Median plasma Phe (micromol/L) calculated from Phe values of the 5 years preceding the inclusion into the study; the new Phe intake (mg Phe/day) represents the dietary Phe assigned during the pre-loading test protocol with the corresponding plasma Phe values (two determinations), reported in square brackets.

ISSN: 1750-1172