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Table 1 Characteristics of patients according to type of diagnosis

From: Carbohydrate status in patients with phenylketonuria

Variables

Type of diagnosis

p 1

p 2

CPKU

MPKU

MHPA

  

Patients N

37

20

26

  

Age (y)

24.92 ± 11.64

16.7 ± 7.26

13.23 ± 10.24

0.002

0.0006

Sex (F/M)

19F / 18 M

13F / 7 M

17F / 9 M

0.48

0.47

TD (E/L)

27E / 10 L

18E / 2 L

25E / 1 L

0.38

0.26

Treatment (D/P + D)

36D / 1P + D

11D / 9P + D

BMI

(kg/m2)

25.57 ± 5.96

15Nor/22↑

22.12 ± 5.78

14Nor/6↑

18.46 ± 3.79

22Nor/4↑

0.0003

0.0004

WC

(cm)

87.08 ± 17.42

13Nor/24↑

73.96 ± 13.92

16Nor/4↑

64.85 ± 11.59

22Nor/4↑

0.002

0.001

Phe median inter- quartile range (μM).

484(378–840)

241.9(205–482)

295.5(246–310)

0.007

3.2e−05

Phe tol (mg/day)

379 ± 148.57

868.9 ± 682.53

Free diet-

Glucose (mg/dL)

81.24 ± 9.76

78.05 ± 4.12

82.19 ± 7.4

0.29

0.29

Insuline (mUI/L)

16.22 ± 10

11.12 ± 5.72

9.03 ± 5.34

0.035

0.02

Peptide C (ng/mL)

2.3 ± 1.03

1.54 ± 0.78

1.31 ± 0.72

0.028

0.002

Urea (mg/dL)

21.86 ± 6.14

23.3 ± 6.36

26.15 ± 6.58

0.18

0.31

Fructosamine(μM)

234.25 ± 44.36

222.8 ± 25.2

232.65 ± 32.74

0.7

0.28

Lactate (mM)

1.28 ± 0.61

1.01 ± 0.49

1.29 ± 0.65

0.45

0.31

IGF-1 (mg/mL)

204.77 ± 77.7

227.89 ± 112.34

193.35 ± 125.69

0.11

0.22

IGF-BP3 (μg/mL)

4.68 ± 1.2

4.65 ± 1.39

4.39 ± 0.97

0.34

0.62

Ghrelin (pg/mL)

884.94 ± 454.91

687.5 ± 319.34

977 ± 517.78

0.16

0.25

HOMA-IR

3.35 ± 2.26

2.17 ± 1.17

1.88 ± 1.19

0.034

0.037

QUICK-Index

0.33 ± 0.03

0.35 ± 0.04

0.36 ± 0.04

0.019

0.026

Total intake of carbohydrates per day (g)

282.59 ± 68.9

248.23 ± 91.94

206.4 ± 47.64

0.17

0.31

% total Kcal as carbohydrates

57.04 ± 8.55

53.47 ± 9.8

45.4 ± 7.4

0.038

0.046

  1. N: sample size; CPKU: classic PKU; MPKU: mild-moderate PKU; MHPA: mild hyperphenylalaninemia; y: year; TD: time of diagnosis; L: late diagnosis (by clinical symptoms or familiar history, after first month of life), E: early diagnosis (by newborn screening); Treatment: D: dietary treatment; P: pharmacological treatment; BMI: body mass index; WC: waist circumference; nor. Normal; p1: p value of the comparison between PKU (CPKU+MPKU) and MHPA; p2: p value of the comparison between CPKU, MPKU and MHPA