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. 2015 Aug 1;4:614–621. doi: 10.1016/j.dib.2015.07.026

Micronutrient in hyperphenylalaninemia

Vanesa Crujeiras a, Luís Aldámiz-Echevarría b, Jaume Dalmau c, Isidro Vitoria c, Fernando Andrade b, Iria Roca d, Rosaura Leis a, Ana Fermandez-Marmiesse e, María L Couce e,⁎
PMCID: PMC4543207  PMID: 26322328

Abstract

The data presented here are the biochemical parameters of 156 patients with hyperphenylalaninemia. PKU patients, who, in order to maintain optimal serum Phe concentrations, receive dietary treatment consisting of a diet low in natural protein supplemented with special low protein foods and a Phe-free amino acid mixture, vitamins and minerals. The obtained data reflects a high percentage of patients with prealbumin and selenium deficiencies, as well as an increased level of folic acid. This data article is related to the research article entitled, “Vitamin and mineral status in patients with hyperphenylalaninemia”, by Crujeiras et al. [1].

Specifications Table
Subject area Metabolic diseases
More specific subject area Vitamins and minerals in phenylketonuria
Type of data Table
How data was acquired By clinical history
Data format Analyzed data
Experimental factors None applied
Experimental features -Tandem mass-spectrometry and standard procedures of laboratory
Data source location PKU patients from three Spanish Centers: Hospital Universitario La Fe-Valencia, Hospital Universitario de Cruces-Basque Country and Hospital Clínico Universitario de Santiago-Galicia.
Data accessibility Data is supplied in this article
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Value of the data
• A high percentage of selenium deficits as well as a high percentage of folic acid overloads are detected in PKU patients treated, which should lead us to reflect on whether to adjust international standards supplements formulated milks.
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1. Data, experimental design, materials and methods

The population comprised PKU patients from three Spanish Centers: Hospital Universitario La Fe-Valencia, Hospital Universitario de Cruces-Basque Country and Hospital Clínico Universitario de Santiago-Galicia. Patients were followed in their center from diagnosis to date. We included both patients diagnosed by newborn screening as well as those diagnosed later. Those who underwent sporadic monitoring were excluded, as well as those cases in which informed consent was not signed by parents and/or patients.

The variables collected for each patient were: age, sex, phenotype (mild hyper-Phe (MHPA) 120–360 μmol/L; mild-moderate PKU 360–1200 μmol/L (MPKU); classic PKU>1200 μmol/L (CPKU) (according to US Guidelines [2], disease detection (early and late diagnosis), annual median blood Phe levels (target blood Phe levels considered adequate for children under 6 years of age were <360 µmol/L; <480 µmol/L between 6 and 10 years and ≤600 µmol/L in older patients), anthropometric measurements (weight, height and BMI), phenylalanine tolerance and BH4 treatment in the BH4 responsive patients; blood chemistry (total protein, prealbumin, electrolytes, selenium (Se), zinc (Zn), B12, folic acid, ferritine, 25-hydroxy vitamin D (25-OHD).

Micronutrients levels evaluated present the following reference intervals (valid for any patient age): Total protein: 6.3–8.5 g/dL; calcium (Ca): 8.7–10.8 mg/dL; phosphorus (P): 2,6-5.9 mg/dL, prealbumin: 21–41 mg/dL; vitamin B12: 180–1900 pg/mL; folic acid: 3–17.5 ng/mL; 25-OHD: 20–42 ng/mL; ferritin: 14–325 ng/mL; Zn: 65–140 µg/dL; Se: 60–125 µg/L

2. Data

In PKU patients, micronutrient deficiencies but no clinical symptoms have been reported, mainly for Zn, Se, Fe, folate and B12 [3–5]. In this study 127 patients had altered values in one or several markers evaluated (Table 1), 58.33% were from CPKU, 21.67% from MPKU and 20% from MHPA patients. Interestingly, from these patients with altered values, the 84.16% had adequate adherence to diet.

Table 1.

Characteristics of Hyperphenylalaninaemia patients with values of the biochemical parameters studied.

P Sex Age BMI Diag Tre. D/T TD Phe tol mg/d Phe median µM Prot g/dL Prealb mg/dL Ca mg/dL P mg/dL Fer ng/mL B12 pg/mL Folic ng/mL 25-OHD ng/mL Zn µg/dL Se µg/dL
1 F 2y 11m N CPKU D E 345 138 6.6 18↓ 9.9 5.6 135 853 24↑ 40 99 47↓
2 M 19y 3m ↑ CPKU D L 217 380 7.9 25 9.8 3.3 36 823 24↑ 38.7 117 74
3 M 2y 7m N CPKU D E 223 258 7 17↓ 10 5.6 29 789 15.1 40.2 76.5 106
4 F 2y 7m ↑↑ CPKU D E 218 123 6.4 14↓ 10.2 5.6 30 444 13 26 56.6↓ 38.6↓
5 M 18y 2m N CPKU D E 469 408 7.5 30 10.1 3.9 37 723 24↑ 37.4 78.5 32.3↓
6 M 28y 9m ↑ CPKU D E 367 1032 7.5 36 10.2 4 32 272 8.6 25.5 119 52.7↓
7 F 1y 2m ↑ CPKU D E 118 162 6.5 14↓ 9.2 4 84 696 18.7↑ 36.2 81.5 68.7
8 F 15y 2m N CPKU D E 454 480 7.7 28 10.4 4 126 405 17.3 19.1↓ 70 70
9 F 2y 4m ↓ CPKU D E 243 90 6.7 16↓ 10.1 5.2 28 934 18.5↑ 40 78.5 62.5
10 F 13y 1m ↑↑ CPKU D E 390 474 6.8 22 9.6 5.2 5↓ 347 24↑ 34.4 82.5 69.5
11 F 3y 3m N CPKU D E 289 225 7 14↓ 10.3 4.7 40 835 13.2 29.3 59.7↓ 19.6↓
12 M 4y 10m N CPKU D E 379 207 6.8 17↓ 10 5.1 28 462 17.2 27.8 106 62
13 F 92y 7m ↑ CPKU D E 440 522 6.6 34 9.3 3.9 40 980 20↑ 41.3 145↑ 69.5
14 F 9y 6m N CPKU D E 153 300 7.5 19↓ 10.1 4.9 52 617 16.9 26.4 71.5 57↓
15 M 7y N CPKU D/T E 1162 336 6.7 21 10.4 4.5 34 779 18.6↑ 48↑ 76.5 68.7
16 M 2y 6m ↓ CPKU D E 473 348 6.4 22 9.8 5 21 468 24↑ 40.6 76.5 58.7↓
17 F 15y 6m N CPKU D E 447 450 7.7 19↓ 10 4.6 32 388 5.68 27.2 101 71
18 M 39y ↑ CPKU D E 205 777 6.5 31 9.4 2.3↓ 89 354 16.5 27.6 113 51.7↓
19 M 5y 8m ↑↑ CPKU D E 242 330 6.9 30 9.3 4.5 40 761 12 24 80 36.1↓
20 M 3y 2m ↑↑ CPKU D E 194 204 6.8 21 10.1 9.9↑ 24 560 – 34.2 78.5 –
21 F 14y 9m ↑ CPKU D E 432 366 6.9 18↓ 10.1 3.8 48 421 16.7 28.7 65 57↓
22 M 2y 9m N CPKU D E 448 243 6.6 20↓ 10.1 4.8 32 656 20.2↑ 31.9 78.5 34↓
23 M 18y 10m N CPKU D L 503 252 7.6 26 9.9 4.8 9.9↓ 824 16.9 36.9 103 68.7
24 F 23y 11m ↑ CPKU D E 320 381 7.4 28 9.3 3.5 61 628 16.3 41.3 144↑ 68.7
25 M 3y 9m ↑ CPKU D E 381 444 6.1↓ 19↓ 9.8 5.9 97 838 24↑ 32.2 125 68.7
26 F 34y 9m ↑↑ CPKU D E 409 1158 7.7 21 9.6 3 39 524 6.4 30.4 120 40.18↓
27 M 5y 10m ↑ CPKU D E 425 258 7.2 16↓ 9.6 5 13↓ 675 15.1 19↓ 73.5 74.9
28 F 30y 4m N CPKU D E 771 972 6.4 21 8.5↓ 2.7 22 301 11.5 20.2 75.5 –
29 M 3y 7m N CPKU D E 226 192 6.3 16↓ 10.7 5.9 8↓ 679 16.3 36.5 80.5 68.7
30 M 23y ↑ CPKU D E 256 846 7.2 37 10.1 2.3↓ 91 471 14.4 41.9 145↑ 77.2
31 M 9m N CPKU D E 250 90 6.4 20↓ 10.3 6.4↑ 267 1201 17.2 37.5 170↑ 77.2
32 F 17y 4m ↑↑ CPKU D L 169 576 6.8 22 9.8 3.3 23 937 24↑ 20 75.5 49.4↓
33 M 10y 6m N CPKU D E 55 156 6.4 17↓ 9.8 3.3 127 423 16 31.8 93 71
34 F 6y 4m N CPKU D E 537 156 7.3 20↓ 10.4 5.5 42 600 14.3 42 71.5 135↑
35 M 5y 11m ↑ CPKU D E 403 138 6.5 18↓ 9.9 5.1 24 372 16.9 52↑ 74.5 124
36 M 5y 1m N CPKU D E 489 384 6.7 19↓ 10 4.5 27 1875 18.5↑ 43.2↑ 77 54.8↓
37 M 42y 6m ↑ CPKU D L 121 888 7.6 24 9.2 – 73 660 30↑ 26 69.2 60
38 F 5y 5m ↑↑ MPKU D/T E 1069 198 6.7 18.4↓ 10 – 35 501 30↑ 33 87.3 42↓
39 F 4y 1m N MPKU D E 438 117 7 22.8 10.2 – 34 766 28↑ 36 67.2 48↓
40 M 26y 4m ↑ MPKU D E 430 300 7 19.1↓ 9 – 108 581 9.44 17↓ 76.8 70
41 M 3y N MPKU D E 312 150 7.2 22.6 9.9 – 30 669 21.1↑ 38 108 44↓
42 F 19y 9m N MPKU D E 1521 882 7.5 42↑ 10.2 – 13 387 21.6↑ 33 95 73
43 M 3y ↑↑ MPKU D E 435 174 7 26.3 10.2 – – 967 17.6↑ 27 98 79
44 M 36y N CPKU D L 401 663 7.8 25.7 9.4 – 11↓ 2000↑ 28↑ 29 71 84
45 M 4y 6m N CPKU D E 360 294 6.7 14.5↓ 9.7 – 15 737 28↑ 39 73 66
46 F 43y 1m ↑ CPKU D L 438 516 6.9 26.6 9.4 – – 368 18.45↑ 30 75 56↓
47 F 12y 1m N MPKU D E 587 132 6.9 20.2↓ 9.6 – – 290 13.72 28 68 73
48 F 8y 5m N MPKU D E 245 192 7.1 17.2↓ 9.8 – – 582 24↑ 21 65 58↓
49 M 9y 4m N CPKU D E 552 264 7.2 29.1 9.9 – 23 616 24↑ 25 85 64
50 M 44y 11m N CPKU D L 299 897 7.2 34 9.8 3.5 52 302 13.4 16.1↓ 59↓ 50↓
51 F 41y 8m N CPKU D L 765 751 7.5 29 9.6 2.6 15 482 43.9↑ 20 73 70
52 M 39y 11m ↑ CPKU D L 600 816 7.6 26 10 3.1 40 698 28.9↑ 27 77 58↓
53 F 39y 6m N CPKU D L 692 300 7.3 25 9.3 2.9 22 1767 32.5↑ 27 74 54↓
54 F 38y 2m ↑↑ MPKU D L 478 766 7.1 24 10.1 3.2 42 401 24↑ 22 84 67
55 F 34y 11m N CPKU D E 450 490 6.7 20↓ 9.8 3.3 25 258 17.9↑ 11↓ 70 52↓
56 M 32y 2m ↑ CPKU D L 505 696 7.9 23 9.8 2.7 21 730 22.01↑ 17↓ 71 53↓
57 M 32y 1m ↑ CPKU D L 962 422 7.6 32 10.4 2.6 82 1031 49.6↑ 28 98 122
58 F 31y 11m N CPKU D L 481 679 7.8 26 9.9 2.8 23 832 32.6↑ 24 71 83
59 M 30y 7m ↑↑ CPKU D E 800 695 7.6 36 10.2 2.7 114 495 38.8↑ 18↓ 85 83
60 M 28y 6m ↑ MPKU D/T E 229 452 7.7 34 9.9 3.6 203 571 30.6↑ 21.5 84 86
61 F 24y 11m ↑ CPKU D E 730 388 7.2 28 10 2.3↓ 22 391 19.7↑ 44↑ 63↓ 58↓
62 F 23y 8m N CPKU D E 237 431 7.5 28 9.8 2.6 18 1266 22.2↑ 17↓ 79 82
63 F 20y 11m ↑↑ CPKU D E 511 370 7.3 29 10.2 4.6 90 435 31.1↑ 30 66 77
64 M 20y 9m ↑ CPKU D E 312 613 7.7 29 10.2 7.7↑ 246 600 16.5 27 101 45↓
65 M 19y 4m N CPKU D E 700 567 6.4 20↓ 10.4 3.2 – 337 7.9 33 104 –
66 F 19y 7m N MPKU D/T E 3051 262 7.2 37 9.9 4 32 584 20.6↑ 31 67 76
67 F 19y 3m ↑↑ MPKU D/T E 461 197 7.7 28 10.3 3.7 14 419 10.4 17↓ 75 87
68 F 18y 8m ↑ MPKU D E 2212 437 8 33 10.1 3.4 37 605 29.1↑ 19.2↓ 74 71
69 F 17y 4m ↑ MPKU D/T E 802 261 7.3 44↑ 10.4 3.3 21 407 5.9 31 96 70
70 M 16y 8m N MPKU D E 1500 680 7.6 31 10.5 3 46 521 8.5 25 76 51↓
71 M 15y 4m ↓ MPKU D/T E 2585 231 7.3 20↓ 10.2 4.8 40 589 16.7 21 74 69
72 F 15y 9m N MPKU D/T E 240 277 7.1 29 9.9 3.5 10↓ 476 21.1↑ 24 100 86
73 F 14y 10m ↑↑ CPKU D E 314 427 7.8 29 10.1 4 45 725 9.7 23 92 45↓
74 F 14y 8m N CPKU D E 2000 388 8.3 34 9.8 4.1 21 959 20.5↑ 23 105 74
75 F 14y 5m N MPKU D/T E 513 199 8 27 9.8 3.3 17 583 12.9 18↓ 75 71
76 M 13y 5m N CPKU D E 260 227 7.8 18↓ 10.1 4 43 1189 11.1 33 83 74
77 F 12y 8m ↓ CPKU D E 399 363 7.7 25 10.1 4.5 39 911 31↑ 28 86 71
78 M 10y 6m ↑ CPKU D E 261 430 7.1 23 10.3 3.8 29 1060 32.4↑ 31 80 54↓
79 M 11y 5m ↑↑ CPKU D E 521 310 7.6 23 10.8 5 17 920 22.9↑ 33 74 49↓
80 M 11y 4m ↑↑ MPKU D E 524 274 7.7 34 11↑ 3.2 23 598 19.8↑ 42 94 51↓
81 M 11y N CPKU D E 148 191 7 19↓ 10.2 4.3 32 1192 16.2 27 94 84
82 F 9y 9m ↑↑ MPKU D E 1250 196 7.3 23 10.4 4.2 75 541 30.4↑ 38 83 75
83 M 8y N MPKU D/T E 352 202 6.8 20↓ 10.1 5.1 29 788 17.5 36 73 63
84 M 7y 10m ↑↑ CPKU D E 872 171 6.4 15↓ 9.2 4.3 39 687 24↑ 29 92 56↓
85 F 7y 8m ↑↑ MPKU D/T E 900 161 7.3 19↓ 9.8 4.3 35 833 34.1↑ 26 76 69
86 F 7y 8m ↑↑ MPKU D/T E 457 155 7.1 18↓ 9.8 4.5 46 865 30.8↑ 46↑ 74 72
87 M 7y 2m N CPKU D E 815 160 7 23 9.5 4 28 1134 38.4↑ 14↓ 91 63
88 F 5y 7m ↑ MPKU D/T E 380 266 6.6 20↓ 9.9 5.3 37 253 8.7 – 95 68
89 F 5y 6m N CPKU D E 1050 162 7.7 14↓ 10 4.1 83 1293 32.5↑ 25 91 86
90 F 4y N MPKU D/T E 264 195 6.9 20↓ 10.4 5.7 6↓ 748 11.5 26 66 75
91 M 3y 8m N MPKU D E 165 179 7 15↓ 9.7 4.2 42 868 36.8↑ 24 67 49↓
92 F 1y 10m N CPKU D E 174 93 7.1 13↓ 10.1 5.3 27 947 26.9↑ 22 98 59↓
93 M 1y 4m N CPKU D E 319 78 7 25 10.2 5.5 29 774 30.7↑ 19↓ 110 52↓
94 F 1y 4m ↑↑ CPKU D E 259 98 6.3 16↓ 10.1 5.5 18 548 23.4↑ 27 113 40↓
95 M 9m ↑ CPKU D E 222 222 6.8 14↓ 10.7 5.6 25 1882 17.5 32 131 –
96 M 7m N CPKU D E 750 204 6.8 21 10.6 5.7 22 623 21↑ 25 91 50↓
97 M 1y 11m N HPA – E 2601 250 6.9 18↓ 10.2 4.9 23 290 10.1 18.7↓ 73 73
98 F 5y 8m N HPA – E 3000 258 7.5 21 9.9 4.5 18 545 13.4 17↓ 82 61
99 F 15y 2m N HPA – E 2700 280 8 23 9.8 3.6 6↓ 730 – 29 74 76
100 F 6y 7m ↑ HPA – E 2600 240 7.1 27 9.6 5.1 22 542 10.8 17.3↓ 68 95
101 F 9y N HPA – E 2400 270 7.4 20↓ 10.1 4.8 57 474 18.8↑ 30 67 67
102 F 8y ↑ HPA – E 1900 230 7.5 24 10.2 4.1 21 638 17.5 18↓ 101 100
103 F 4y 8m N HPA – E 2800 225 6.8 20↓ 9.6 4.7 24 738 13.6 31 88 93
104 M 4y ↑ HPA – E 600 180 6.9 22 9.7 5 12↓ 547 18.6↑ 21 110 54↓
105 M 1y 1m N HPA – E 2000 127 6.5 23 11.3↑ 5.7 23 627 6.4 34 88 65
106 F 9y N HPA – E 1450 210 6.9 22 9.7 4.8 21 720 19↑ 18↓ 75 85
107 M 4y ↑↑ HPA – E 1350 300 7.3 16↓ 9.9 5.1 9↓ 488 4.1 27 73 82
108 F 3y 11m ↓ HPA – E 857 305 7.3 16↓ 9.7 4.7 14 796 17.5 33.9 57↓ 72
109 M 1y 1m N HPA – E 1500 320 6.6 20↓ 9.5 5.1 41 727 23.8↑ 17.6↓ 101 66
110 F 7y 10m N HPA – E 722 230 7.2 15↓ 10 4.3 43 1108 9 28 60↓ 94
111 F 6y 3m N HPA – E 750 173 7.1 16↓ 9.9 5.2 26 686 11.9 16.6↓ 87 83
112 F 4y 1m N HPA – E 2000 175 6.5 16↓ 9.5 4.6 42 905 19.1↑ 33 72 90
113 F 3y 6m N HPA – E 2400 198 7.1 23 10.1 4.6 10↓ 669 16.2 12↓ 98 81
114 M 11y N HPA – E 2299 300 7.4 20↓ 9.6 4.4 20 650 17.5 14↓ 79 83
115 M 8y 1m ↑ HPA – E 1800 266 7 20↓ 10.4 4.1 44 495 13.8 29 74 95
116 F 2y 10m N HPA – E 1900 97 7 20↓ 10.4 5.3 27 483 17.5 30 65 106
117 F 5y 7m N HPA – E 1415 139 7 17↓ 10.2 5.1 17 741 17 30.5 72 72
118 F 2y 11m N HPA – E 1450 283 6.3 21 9.3 3.9 94 435 17.5 30 62↓ 61
119 F 3y 4m N HPA – E 2100 180 7.6 34 10.9↑ 5.5 47 606 17.5 20 73 70
120 M 1y 6m N HPA – E 950 305 6.6 18↓ 10.1 5.9 10↓ 190 15.1 29 61↓ 53↓
121 F 23y 9m N CPKU D E 235 1545 7.6 24 9.5 2.5↓ 32 421 14 24 109 85
122 F 28y 1m ↑↑ CPKU D E 437 624 7.6 24 9.5 3.3 80 1289 17 41↑ 65 69
123 M 22y 7m N CPKU D E 443 516 6.1↓ 21 8.9 3.8 212 982 17 28 76 87
124 M 10y 4m N MPKU D/T E 922 220 7.7 26 11↑ 4 42 435 12 27 71 86
125 F 17y 2m N CPKU D E 245 990 7.3 30 9.8 6.5↑ 28 363 5.8 24 112 75
126 F 19y 19m N MPKU D E 312 882 7.5 35 10.2 2.2↓ 41 387 17.5 33 95 73
127 M 8y 2m ↑↑ HPA – E 2100 290 7.5 21 10.1 4.6 23 790 10.4 42 ↑ 70 93
128 M 13y 4m N CPKU D E 182 282 6.7 32 10.1 4.5 44 394 17.2 30 91 85
129 M 19y 11m ↑↑ CPKU D E 492 396 7.1 29 9.8 4.7 29 445 11.8 29 76 69
130 F 27y 9m N CPKU D E 365 516 6.6 24 8.7 3.4 40 1069 17.5 40 85 85
131 F 12y 7m ↑↑ MPKU D/T E 823 279 6.5 21 9.4 4.1 32 389 14 32 74 65
132 M 10y 4m N MPKU D/T E 922 222 7.5 26 9.8 3.8 55 437 12 27 70 86
133 M 18y 5m ↓ CPKU D E 256 195 6.9 34 9.8 4.3 17 269 10.2 28 76 74
134 F 42y 1m ↑ MPKU D/T E 855 756 7 29 9.6 4.3 – 366 14.7 35 116 68
135 F 11y 5m ↑↑ MPKU D/T E 2052 180 7.3 21 10.3 3.8 72 420 10.3 38 98 64
136 M 23y 5m ↑ CPKU D L 452 735 7.8 29 9.7 4.2 18 209 17 20 81 88
137 F 25y 4m N CPKU D/T E 730 803 7.4 31 9.9 2.8 42 229 4.7 27 69 89
138 F 21y11m N MPKU D/T E 3000 232 7.5 26 9.9 3.7 30 394 11.1 28 70 82
139 F 17y 10m N MPKU D/T E 802 436 7.5 29 9.5 3.4 22 571 17.5 22 98 72
140 F 14y N CPKU D E 413 204 7.6 32 10 4.1 43 727 11.1 31 86 68
141 M 13y N CPKU D E 260 449 8 37 10 4 50 905 17.5 33 101 85
142 F 10y 7m ↑↑ CPKU D E 148 476 7.5 24 9.9 4.1 29 605 13.7 27 113 67
143 M 10y 2m N MPKU D/T E 1600 245 6.8 25 10.2 4.3 39 699 16.1 27 68 87
144 F 3y 5m ↑↑ CPKU D E 264 169 6.6 22 10.4 5.2 27 1247 – 26 89 80
145 M 2y 8m N CPKU D E 165 76 6.6 24 10.5 4.2 25 1057 – 24 82 80
146 F 1y 5m N CPKU D E 174 248 7.2 24 10.4 4.9 20 877 – 23 95 65
147 F 5y 7m N HPA – E 1900 245 7.5 24 10.1 4.8 18 382 10.1 20 97 72
148 F 18y 10m ↑ HPA – E 2800 260 7.4 30 9.7 4 17 520 3.9 31 86 70
149 M 7y 11m N HPA – E 1450 235 7.5 21 10.8 4.5 21 730 17 20 77 75
150 M 11y 11m N HPA – E 2300 280 7.4 24 9.6 4.9 14 509 8.5 20 132 85
151 F 8y 6m N HPA – E 1169 270 6.8 21 9.5 4.5 48 356 41.5 20 90 69
152 M 1y 6m N HPA – E 950 139 6.8 22 9.7 4 30 342 9.6 29 78 70
153 M 3y 3m N HPA – E 1642 192 6.6 22 9.4 5.2 19 537 26 24 74 64
154 F 23y 2m N CPKU D L 451 1272 7.4 35 10.8 3.6 25 362 4.2 23 81 91
155 F 37y 3m ↑ CPKU D L 299 576 7.2 25 10.3 3.3 23 228 – 20 85 67
156 M 16y 5m N HPA – E 330 2000 7.1 22 10.1 3.4 22 640 15 33 74 87
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Characteristics of Hyperphenylalaninaemia patients with altered values of the biochemical parameters studied.

P: patient; M: male; F: female; BMI: body mass index; N: normal; ↑overweight, ↑↑ obesity, CPKU: classic phenylketonuria; MPKU: mild-moderate PKU; MHPA: moderate hyperphenylalaninaemia; Tre:Treatment; D: Dietetic; T: BH4 therapy; TD: time of diagnosis; E: Early; L:late; Phe tol: Phenylalanine tolerance; Prot: Total protein total; Prealb: Prealbumin; Fer: Ferritine.

Total protein, Ca, P, B12, ferritin, and Zn levels were in the normal range in almost all patients. Nevertheless, Palb was decreased in 34.6% of patients (74% from PKU) being the 94.4% of them below 18 years old and having the 96.3% an adequate adherence to treatment. Se was found to be diminished in 25% of patients, 76.9% of them with classic PKU but only in 2.56% of patients under BH4 treatment.

An adequate intake of Ca, P and 25-OHD is necessary for optimal bone accretion but it is not enough for bone normal development because several studies have showed that protein intake deficiency can influence the bone mass [6,7]. Our patients generally had adequate levels of Ca and P, but there were found low levels of 25-OHD in 14% of them. The 25-OHD was found altered in 14% of total patients. No deficiency of folic acid was found in our cohort, but was found to be above the upper limit in 39% of patients, 65.6% with classic PKU and 82% of them with adequate adherence to diet.

Patients treated with BH4 presented lower levels of B12 with respect to non-treated (536 vs 694 pg/mL, p: 0.0094). No other anthropometric parameters were found to be correlated with any variable in our study.

We noted in our study a high percentage of PKU patients with good adherence to diet with Prealbumin deficiency and total protein normal. Also a high percentage of PKU patients with Se deficiency had folic acid increase. On the contrary, only el 2.56% de patients under BH4 treatment showed Se deficiency.

Footnotes

Appendix A

Supplementary data associated with this article can be found in the online version at doi:10.1016/j.dib.2015.07.026.

Contributor Information

Luís Aldámiz-Echevarría, Email: luisjose.aldamiz-echevarazuara@osakidetza.net.

Jaume Dalmau, Email: dalmau_jai@gva.es.

Isidro Vitoria, Email: Vitoria_isi@gva.es.

Fernando Andrade, Email: fernando.andradelodeiro@osakidetza.net.

Iria Roca, Email: iria.roca.otero@gmail.com.

Rosaura Leis, Email: mariarosaura.leis@usc.es.

Ana Fermandez-Marmiesse, Email: amarmiesse@gmail.com.

María L. Couce, Email: maria.luz.couce.pico@sergas.es.

Appendix A. Supplementary materials

Supplementary material

mmc1.doc (512.5KB, doc)

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