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. 2016 Jul 13;104(2):334–345. doi: 10.3945/ajcn.116.135293

TABLE 1.

Characteristics of enrolled participants1

Subject no. BMI, kg/m2 Classical/ variant2 Mutation3 Phe, μmol/L Tyr, μmol/L
1 21.7 Variant4 L348V; 165T 201 25
2 20.3 Variant R68S; IVS12+1G>T 224 36
3 39.7 Variant L48S; 195_K96delinsK 297 53
4 25.1 Classical R408W; V338M 301 26
5 27.3 Classical R408W; IVS12+1G>T 367 36
6 21.1 Variant4 R241H; Q304Q 380 29
7 24.6 Variant 165T; IVS10-11G>A 461 34
8 24.6 Classical R158Q; R261Q 481 30
9 25.3 Classical E280K; L348V 520 56
10 34.1 Classical R408W; IVS7+3G>C 535 42
11 29.2 Variant E280K; E390G 541 20
12 22.3 Classical MIV; A246fsde1C 606 36
13 26.8 Variant4 R158Q; R408W 640 33
14 23.8 Variant4 R157N; L348V 643 36
15 23.5 Classical R408W; IVS12 649 23
16 18.4 Variant4 P416Q; 664delGA 704 26
17 23.4 Classical Y356X; R408W 743 31
18 27.0 Classical R408W; R261Q 754 47
19 31.7 Classical IVS1+5G>T; IVS12+1G>A 800 38
20 25.3 Variant R408W; IVS12+1G>A 821 37
21 26.9 Classical L242F; R408W 829 29
22 28.1 Classical R408W; Y356X 843 38
23 26.3 Classical E280K; IVS12+1G>T 852 20
24 29.5 Classical Y277D; IVS10-11G>A 893 17
25 32.0 Classical E280K; L348V 937 40
26 23.9 Classical R261Q; IVS10-11G>A 1059 30
27 23.8 Classical F55>Lfs; IVS5+1G>A 1086 39
28 20.1 Classical F55>Lfs; R408W 1160 30
29 26.9 Classical R408W; IVS12+1G>A 1360 26
30 23.0 Classical IVS4+5G>T; IVS12+1G>A 1418 37
1

Values were obtained at the first study visit when participants were consuming their usual low-Phe amino acid diet, and a fasting blood sample was obtained for baseline analysis of amino acids in plasma.

2

Subjects classified as having a variant form of phenylketonuria displayed a phenylalanine hydroxylase genotype and/or response to the drug sapropterin dihydrochloride, a synthetic form of the tetrahydrobiopterin cofactor for phenylalanine hydroxylase, that was consistent with a milder or variant form of phenylketonuria.

3

Mutation names are defined at http://www.pahdb.mcgill.ca and http://www.biopku.org.

4

Stable dose of sapropterin dihydrochloride (KUVAN, BioMarin Pharmaceutical Inc.) throughout the study.