Table 2.
Number of patients with hyperphenylalaninaemia with altered biochemical concentrations of lipid profile and other related parameters
| TC (<120 mg/dL) | TC (>200 mg/dL) | TGC(>100 mg/dL below 10 years of age >130 mg/dL above 10 years of age) | TGC (<30 mg/dL) | HDL-C (<40 mg/dL) | LDL-C (>130 mg/dL) | ApoA (<115 mg/dL) | ApoB (>110 mg/dL) | tHcy. (<5 μmol/L) | tHcy. (>15 μmol/L) | Zn (<65 μg/dL) | Cu (<65 μg/dL) | Cu (>140 μg/dL) | B12 (>1900 pg/mL) | hsCRP (>1.1 mg/dL) | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| over total of patients N (%) | 19 (13.47) | 6 (4.25) | 26(18.44) | 2(1.42) | 17 (12.06) | 4 (2.84) | 6(4.25) | 4(2.84) | 58(41.13) | 2(1.42) | 28(19.86) | 31(21.98) | 3(2.13) | 2(1.42) | 5(3.55) |
| Age (below 18 years of age) N (%) | 14 (73.68) | 4 (66.67) | 10(38.46) | 1(50) | 9(52.94) | 1(25) | 6(100) | 2(50) | 50(86.2) p = 3.18e−4 | 0(0) | 23(82.14) | 17(54.84) | 0(0) | 0(0) | 0(0) |
| Gender (Male) N (%) | 12(63.16) | 3(50) | 9(34.62) | 0(0) | 10(58.82) | 1(25) | 4(66.67) | 2(50) | 26(44.83) | 2(100) | 10(35.71) | 12(38.7) | 0(0) | 0(0) | 1(20) |
| PKU patients N (%) | 19 (100) p = 0.0125 | 2(33.33) | 21(80.77) | 2(100) | 14(82.35) | 3(75) | 5(83.33) | 2(50) | 42(72.41) | 2(100) | 19(67.86) | 26(83.87) | 1(33.33) | 2(100) | 5(100) |
| 6R-BH4 therapy N (%) | 1 (5.26) | 0(0) | 0(0) | 1(50) | 0(0) | 0(0) | 1(16.67) | 0(0) | 9(15.52) | 0(0) | 3(10.71) | 4(12.9) | 0(0) | 0(0) | 2(40) |
| Adherence to treatment (adequate) N (%) | 16 (84.21) | 6(100) | 22(84.62) | 1(50) | 14(82.35) | 3(75) | 5(83.33) | 4(100) | 50 (86.2) | 1(50) | 26(92.86) | 26(83.87) | 3(100) | 2(100) | 4(80) |
| Phe tolerance (under 500 mg/day) N (%) | 18 (94.73) p = 2.29e−4 | 3(50) | 22(84.62) | 2(100) | 13(76.47) | 2(50) | 5(83.33) | 3(75) | 24(41.38) | 0(0) | 8(28.57) | 22(70.97) | 1(33.33) | 0(0) | 3(60) |
*p-values were obtained using Fisher’s exact test and adjusted by Benjamini-Hochberg’s correction to determine statistically significant differences between patients with deficient micronutrient concentrations andpatients in the normal range according to: age (below/above 18 years of age), gender (male/female), diagnosis (PKU / MHPA), 6R-BH4 therapy (yes/no), adherence to dietary treatment (adequate/inadequate) and Phe tolerance (below/above 500 mg/day). Statistically significant differences are shown in the Table (p < 0.05). N number of patients, % percentage of patients, TC total cholesterol, TGC triglycerides, HDL-C high-density lipoprotein cholesterol, LDL-C low- density lipoprotein cholesterol, ApoA apolipoprotein A, ApoB apolipoprotein B, tHcys total homocysteine, Zn Zinc, Cu Cupper, B 12 vitamin B12, hsCRP high sensitivity C-Reactive Protein, PKU phenylketonuria, MHPA mild hyperphenylalaninaemia, Phe phenylalanine