Table 1

Study population of 8 PKU patients
Patient Age (years) Sex PAH gene mutations nucleotide change (Amino acid change) Phe intake (mg/24 h)* Phe intake (mg/kg/24 h)* Tyr intake (mg/24 h)# Tyr intake (mg/kg/24 h)# Amino acid supplements (g protein/24 h)** (SD)## Amino acid supplements (g protein/kg/24 h)**
Total from food from amino acid supplements
1 42 m c.842C>T 1071 14 9057 115 80 (3) 1,0
(p.P281L)
6080
c.842C>T
2977
(p.P281L)
2 20 f n.a. 1653 35 1144 24 0 (0) 0,0
0
1140
3 22 f c.842C>T 1142 12 6191 66 61 (3) 0,6
(p.P281L)
3660
c.842C>T
2531
(p.P281L)
4 32 m c.580_581delCT 1083 13 5316 63 51 (3) 0,6
(p.L194Efs*5) 3060
2256
c. 782G>A
(p.R261Q)
5 32 f c.473G>A 1395 19 5045 69 45 (3) 0,6
(p.R158Q)
2700
c.473G>A
2345
(p.R158Q)
6 26 f c.1222C>T 1149 18 1378 21 0 (0) 0,0
(p.R408W) 0
c.1066-3C>T
1378
(p.?)
7 28 f c.782G>A 1090 13 8329 97 71 (3) 0,8
(p.R261Q) 4757
c.1222C>T 3572
(p.R408W)
8 44 f c.60+5G>T 1556 26 4084 69 31 (3) 0,5
(p.?)
1266
c.727C>T
2818
(p.R243*)

* Phenylalanine intake (mg) during study visit calculated on basis of dietary protocols.

# Tyrosine intake (mg) during study visit calculated on basis of dietary protocols specified as total intake, tyrosine intake from food and tyrosine intake from amino acid supplements.

** Intake of amino acid supplements (g protein) during study visit.

## Distribution of amino acids supplements during study visit in number of single doses (SD).

m = male; f = female.

GrĂ¼nert et al.

GrĂ¼nert et al. Nutrition Journal 2013 12:60   doi:10.1186/1475-2891-12-60

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