. 2014 Jun 23;2:57. doi: 10.3389/fped.2014.00057

Table 1.

Demographic and clinical characteristics of the PKU sample.

Patient ID	Sex	Genotype		Biochemical phenotype	Age at diet onset (days)	Age at the study (yrs/mo)	IDC (μM) birth to 10 years and 11 months	IDC (μM) 11 years to the study	Time-gap since diet continuation (yrs/mo)
		Allele 1	Allele 2
01	F	p.Arg261Gln	c.1066-11G > A	CPKU	14	10/1	434	–	On diet^a
02	F	p.Arg408Trp	p.Arg408Trp	CPKU	10	10/8	486.5	–	On diet
03	M	p.Tyr414Cys	c.1066-11G > A	MPKU	37	10/9	353	–	On diet^a
04	M	p.Leu48Ser	p.Leu369Leu	MPKU	22	10/11	356.5	–	On diet^a
05	M	p.Asp59Val	p.Arg261Gln	MPKU	31	10/11	313	–	On diet^a
06	F	p.Arg261Gln	p.Arg176^a	MPKU	30	12/11	375	865	On diet
07	M	p.Tyr414Cys	p.Arg408Gln	HPA	21	13/10	346	393	3/0
08	F	p.Leu48Ser	p.Leu48Ser	MPKU	44	14/9	298	422	3/3
09	M	c.1066-11G > A	p.Arg176^a	CPKU	15	16/3	358.5	743.5	On diet
10	M	c.1066-11G > A	p.Gly352Cys	MPKU	30	16/11	370	571^a	3/0
11	M	p.Asp338Tyr	p.Pro281Leu	MPKU	32	17/1	322	545	3/6^a
12	F	p.Leu194Pro	p.Arg261^a	CPKU	16	17/3	388	1050.5	4/3
13	M	c.1066-11G > A	p.Tyr414Cys	MPKU	14	17/3	542	606	On diet^a
14	M	p.Arg261Gln	p.Arg408Gln	MPKU	12	17/11	231	478	On diet
15	M	p.Arg408Trp	p.Arg408Trp	CPKU	25	17/11	545	754	On diet
16	F	p.Arg261Gln	p.Arg158Gln	MPKU	20	18/2	235	699	On diet
17	M	p.Pro281Leu	p.Arg158Gln	CPKU	30	20/0	600	834.75	0/5
Mean					23.7		385.5	647.9
SD					9.69		105	198
Range					10–44		231–600	393–1050

CE, clinical examination; IDC, index of dietary control, median value of Phe for the considered period; yrs/mo, years/months; CPKU, classical PKU (blood Phe at diagnosis or under free diet persistently >1200 μM); MPKU, mild PKU (blood Phe at diagnosis or under free diet persistently >600 <1200 μM); HPA, persistent hyperphenylalaninemia (blood Phe at diagnosis or under free diet persistently >360 <600 μM).

^a Under sapropterin treatment