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

Table 3 Response to BH4-loading test according to the phenotypic class

Subject (#)	Phenotype	Genotype	Age at loading test (years)	Maximal Phe reduction from T0 (%)	Rapid (<24 h)/ slow response	Phe (T0) ( *micromol/L)*	Tyr (T0) ( *micromol/L)*	Phe/Tyr (T0)
1	cPKU	R261Q/P281L	13	40	Slow	1052	46	22.8
2	cPKU	R261Q/P281L	11	41	Slow	644	51	12.6
3	moPKU	R261Q/R158Q	17	33.3	Slow	768	62	12.3
4	moPKU	R261Q/L48S	14	66.6	Rapid	434	44	9.8
5	moPKU	R261Q/P281L	14	36.8	Slow	689	66	10.4
6	moPKU	L48S/Q301P	7	77.1	Slow	556	44	12.6
7	mPKU	L48S/R158Q	14	48	Slow	538	59	9.1
8	mPKU	L48S/D222G	12	58	Rapid	446	67	6.6
9	mPKU	165delT/P366H	18	67	Rapid	605	42	14.4
10	mPKU	R261Q/R261Q	13	44	Rapid	680	51	13.3
11	mPKU	R261Q/IVS10nt-11G > A	20	34	Slow	600	53	11.3
12	mPKU	R261Q/P281L	17	47.3	Slow	1024	45	22.7
13	mPKU	L48S/R158Q	21	60	Rapid	726	53	13.6
14	mPKU	L48S/R158Q	10	53	Slow	471	61	7.7
15	mPKU	L48S/L48S	5	80	Rapid	690	48	14.3
16	mPKU	R158Q/Y414C	12	52	Rapid	665	50	13.3
17	mHPA	R158Q/D338Y	14	54.6	Rapid	519	54	9.6
18	mHPA	L48S/R158Q	19	45	Slow	522	54	9.6
19	mHPA	165delT/P366H	22	59	Rapid	566	38	14.8

ISSN: 1750-1172