Nutrient Status and Intakes of Adults with Phenylketonuria
Abstract
:1. Introduction
2. Materials and Methods
2.1. Study Design
2.2. Study Population
2.3. Outcome Measures
2.3.1. Main Outcome: Blood Nutrient Status
2.3.2. Other Outcomes
2.4. Statistical Analyses
2.4.1. Main Outcome
2.4.2. Other Outcomes
2.4.3. Sensitivity Analysis
3. Results
3.1. Blood Concentrations of Nutrients and Other Biochemical Parameters
3.2. Nutritional Intake
3.3. Subjective Cognitive Wellbeing
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Parameter/Statistic | PKU (N = 34) | Control (N = 35) | p-Value 1 | |
---|---|---|---|---|
Age (years) | Mean (SD) | 28.00 (8.88) | 28.54 (9.34) | 0.9999 |
95% CI | 24.90–31.10 | 25.34–31.75 | ||
Median | 25.0 | 25.0 | ||
Min–Max | 18.0–54.0 | 18.0–57.0 | ||
Sex | Female | 16 (47.1%) | 16 (45.7%) | |
Male | 18 (52.9%) | 19 (54.3%) | ||
BMI (kg/m2) | Mean (SD) | 25.25 (6.11) | 24.18 (3.85) | 0.3879 |
95% CI | 23.12–27.39 | 22.85–25.50 | ||
Median | 23.7 | 23.7 | ||
Min–Max | 17.3–50.6 | 18.3–34.7 | ||
Patient-specific Baseline Characteristics | ||||
PKU phenotype | Classic PKU | 33 (97.1%) | ||
Moderate PKU | 1 (2.9%) | |||
Phe tolerance (mg/day) 2 | N | 26 | ||
Mean (SD) | 430.4 (141.4) | |||
95% CI | 373.3–487.5 | |||
Median | 400.2 | |||
Min–Max | 200.0–700.0 | |||
Average Phe-level of 1 year ago (µmol/L) | N | 34 | ||
Mean (SD) | 668.9 (267.3) | |||
95% CI | 575.7–762.2 | |||
Median | 648.9 | |||
Min–Max | 241.0–1479.0 | |||
Average Phe-level of 2 years ago (µmol/L) | N | 34 | ||
Mean (SD) | 631.4 (228.4) | |||
95% CI | 551.7–711.1 | |||
Median | 645.5 | |||
Min–Max | 241.8–1189.0 | |||
Historical compliance | According to: | Metabolic team | Patient | |
low-Phe diet | Never | 1 (2.9%) | 1 (2.9%) | |
Occasionally | 3 (8.8%) | 0 (0%) | ||
Sometimes | 6 (17.6%) | 6 (17.6%) | ||
Frequently | 12 (35.3%) | 14 (41.2%) | ||
Usually | 7 (20.6%) | 10 (29.4%) | ||
Always | 5 (14.7%) | 3 (8.8%) | ||
Current compliance low-Phe diet | Yes | 22 (64.7%) | ||
No | 12 (35.3%) |
Statistical Difference | Parameter | Pairs (N) | Difference Mean (SD) | p-Value 1 |
---|---|---|---|---|
Vitamins 2 | ||||
Significantly lower in PKU group | Alpha-tocopherol (Vitamin E) [µmol/L] | 33 | −6.03 (14.01) | 0.0189 |
Significantly higher in PKU group | Folic Acid [nmol/L] | 34 | 17.56 (14.12) | <0.0001 |
25-OH Vitamin D Total [nmol/L] | 34 | 31.45 (33.05) | <0.0001 | |
Vitamin B12 [pmol/L] | 34 | 195.82 (259.99) | 0.0001 | |
Pyridoxal 5′-phosphate (Vitamin B6) [nmol/L] | 33 | 82.21 (65.45) | <0.0001 | |
Minerals 3 | ||||
Significantly lower in PKU group | Selenium [µmol/L] | 34 | −0.18 (0.32) | 0.0024 |
No significant difference | Calcium [mmol/L] | 34 | 0.02 (0.09) | 0.1413 |
Ferritin [µg/L] | 34 | −10.80 (97.07) | 0.5211 | |
Transferrin [g/L] | 34 | −0.12 (0.62) | 0.2803 | |
Zinc [µmol/L] | 34 | 1.09 (4.69) | 0.1855 | |
Significantly higher in PKU group | Magnesium [mmol/L] | 34 | 0.02 (0.06) | 0.0269 |
Lipids | ||||
No significant difference | Plasma EPA (mg/L) | 34 | −3.80 (14.02) | 0.1238 |
Plasma DHA (mg/L) | 34 | 0.49 (25.05) | 0.9092 | |
Plasma EPA (%) | 34 | −0.07 (0.46) | 0.3539 | |
Plasma DHA (%) | 34 | 0.20 (0.77) | 0.1427 | |
RBC EPA (%) | 30 | −0.12 (0.36) | 0.0777 | |
RBC DHA (%) | 30 | 0.22 (1.25) | 0.3460 | |
Other Parameters 4 | ||||
Significantly lower in PKU group | Creatinine [µmol/L] | 34 | −5.15 (12.51) | 0.0222 |
Homocysteine [µmol/L] | 34 | −2.85 (5.02) | 0.0023 | |
Ubiquinone [nmol/L] | 34 | −312.32 (380.40) | <0.0001 | |
Uridine [µmol/L] | 29 | −0.54 (1.24) | 0.0252 |
Statistical Difference | Parameter | Difference Mean (SD) | p-Value 1 |
---|---|---|---|
Significantly lower in PKU group | Arginine [µmol/L] | −23.43 (23.13) | <0.0001 |
Asparagine [µmol/L] | −15.28 (42.76) | 0.0450 | |
Glutamine [µmol/L] | −80.25 (90.48) | <0.0001 | |
Histidine [µmol/L] | −7.84 (13.08) | 0.0014 | |
Isoleucine [µmol/L] | −8.89 (12.82) | 0.0003 | |
Leucine [µmol/L] | −21.21 (20.95) | <0.0001 | |
Lysine [µmol/L] | −24.63 (32.25) | <0.0001 | |
Methionine [µmol/L] | −3.30 (4.31) | <0.0001 | |
Proline [µmol/L] | −45.62 (129.65) | 0.0482 | |
Tryptophan [µmol/L] | −8.36 (9.48) | <0.0001 | |
Tyrosine [µmol/L] | −11.42 (18.53) | 0.0010 | |
Valine [µmol/L] | −19.08 (42.81) | 0.0139 | |
No significant difference | Alanine [µmol/L] | −6.80 (86.89) | 0.6513 |
Aspartic Acid [µmol/L] | −1.10 (3.92) | 0.1114 | |
Cysteine [µmol/L] | 4.50 (40.36) | 0.5201 | |
Serine [µmol/L] | −6.30 (30.38) | 0.2350 | |
Threonine [µmol/L] | −8.96 (42.40) | 0.2263 | |
Significantly higher in PKU group | Glycine [µmol/L] | 34.92 (75.88) | 0.0113 |
Phenylalanine [µmol/L] | 795.89 (284.60) | <0.0001 |
Statistical Difference | Parameter | Pairs (N) | Difference (Median) | p-Value 1 | Subjects with Intake Below DRI or above UL 2 [N/Total N (%)] | ||
---|---|---|---|---|---|---|---|
PKU | Control | ||||||
Vitamins | |||||||
No significant difference | Niacin (Vitamin B3) [mg/day] | 29 | 2.9 | 0.0737 | Below DRI | Missing 3 | Missing 3 |
Significantly higher in PKU group | Vitamin B12 [µg/day] | 28 | 1.8 | 0.0212 | Below DRI | 11/29 (37.9) | 17/34 (50.0) |
Thiamin (Vitamin B1) [mg/day] | 29 | 1.3 | <0.0001 | Below DRI | Missing 3 | Missing 3 | |
Riboflavin (Vitamin B2) [mg/day] | 29 | 0.8 | <0.0001 | Below DRI | 5/30 (16.7) | 20/34 (58.8) | |
Pantothenic acid (Vitamin B5) [mg/day] | 9 | 5.9 | 0.0039 | Below DRI | 1/18 (5.6) | 9/12 (75.0) | |
Vitamin B6 [mg/day] | 29 | 1.6 | <0.0001 | Below DRI | 2/30 (6.7) | 15/34 (44.1) | |
Vitamin C, Total Ascorbic Acid [mg/day] | 29 | 81.3 | <0.0001 | Below DRI | 3/30 (10.0) | 19/34 (55.9) | |
Vitamin D (D2 + D3) [µg/day] | 29 | 16.2 | <0.0001 | Below DRI | 11/30 (36.7) | 34/34 (100) | |
Vitamin E (alpha-tocopherol) [mg/day] | 28 | 9.1 | 0.0104 | Below DRI | 6/28 (20.7) | 14/34 (41.2) | |
Minerals | |||||||
No significant difference | Phosphorus [g/day] | 29 | 0.2 | 0.1134 | Below DRI | 0/30 (0) | 1/34 (2.9) |
Significantly higher in PKU group | Calcium [g/day] | 29 | 0.9 | <0.0001 | Below DRI | 4/30 (13.3) | 22/34 (64.7) |
Above UL | 5/30 (16.7) | ||||||
Copper [mg/day] | 29 | 1.2 | <0.0001 | Below DRI | 3/30 (10.0) | 20/34 (58.8) | |
Above UL | 2/30 (6.7) | ||||||
Iron [mg/day] | 29 | 12.5 | <0.0001 | Below DRI | 2/30 (6.7) | 22/34 (64.7) | |
Magnesium [mg/day] | 29 | 179.7 | 0.0003 | Below DRI | 6/30 (20.0) | 21/34 (61.8) | |
Above UL 4 | 20/30 (66.7) | ||||||
Selenium [µg/day] | 29 | 37.0 | <0.0001 | Below DRI | 7/30 (23.3) | 30/34 (88.2) | |
Zinc [mg/day] | 29 | 9.1 | <0.0001 | Below DRI | 4/30 (13.3) | 23/34 (67.6) | |
Above UL | 8/30 (26.7) | ||||||
Energy and macronutrients | |||||||
Significantly lower in PKU group | 20:5 n-3 (EPA) [mg/day] | 12 | −25.0 | 0.0039 | |||
No significant difference | Energy [kcal/day] | 29 | 189.7 | 0.3024 | |||
Fiber [g/day] | 19 | −1.8 | 0.4180 | ||||
22:6 n-3 (DHA) [mg/day] | 13 | −70.0 | 0.0547 | ||||
Protein [g/day] | 29 | −4.3 | 0.7439 |
Nutrient Category | Parameter | PKU Subjects N | % Intake from PS Mean (SD) |
---|---|---|---|
Amino Acids | Phenylalanine | 30 | 3.46 (9.20) |
Tyrosine | 18 | 90.30 (20.75) | |
Vitamins | Niacin (Vitamin B3) | 30 | 66.30 (21.90) |
Vitamin B12 | 29 | 83.58 (14.23) | |
Thiamin (Vitamin B1) | 30 | 62.97 (20.77) | |
Riboflavin (Vitamin B2) | 30 | 67.84 (19.93) | |
Pantothenic acid (Vitamin B5) | 18 | 66.59 (23.22) | |
Vitamin B6 | 30 | 62.91 (20.83) | |
Vitamin C, Total Ascorbic Acid | 30 | 42.61 (23.79) | |
Vitamin D (D2 + D3) | 30 | 89.03 (18.42) | |
Vitamin E (alpha-tocopherol) | 28 | 52.19 (22.64) | |
Minerals | Phosphorus | 30 | 63.46 (17.95) |
Calcium | 30 | 63.84 (22.23) | |
Copper | 30 | 58.47 (24.60) | |
Iron | 30 | 67.10 (19.01) | |
Magnesium | 30 | 62.02 (19.93) | |
Selenium | 30 | 70.26 (23.44) | |
Zinc | 30 | 74.29 (23.16) | |
Energy and Macronutrients | 20:5 n-3 (EPA) | 4 | 75 (50) |
Energy | 30 | 18.58 (8.35) | |
Fiber | 20 | 7.13 (15.78) | |
22:6 n-3 (DHA) | 6 | 100 (0) | |
Protein | 30 | 65.57 (17.02) |
Parameter | Statistic | PKU N = 32 | Controls N = 35 | p-Value 1 |
---|---|---|---|---|
Perceived cognitive impairments (CogPCI) | Mean (SD) | 57.75 (17.40) | 64.83 (7.48) | 0.0662 |
95% CI | 51.48–64.02 | 62.26–67.40 | ||
Median | 62.5 | 68.0 | ||
Min–Max | 2.0–72.0 | 44.0–72.0 | ||
Perceived cognitive abilities (CogPCA) | Mean (SD) | 21.31 (5.18) | 24.29 (3.67) | 0.0033 |
95% CI | 19.45–23.18 | 23.02–25.55 | ||
Median | 23.0 | 26.0 | ||
Min–Max | 9.0–28.0 | 15.0–28.0 | ||
Comments from others (CogOth) | Mean (SD) | 13.88 (4.13) | 15.40 (1.46) | 0.0041 |
95% CI | 12.39–15.36 | 14.90–15.90 | ||
Median | 16.0 | 16.0 | ||
Min–Max | 1.0–16.0 | 8.0–16.0 | ||
Impact on quality of life (CogQOL) | Mean (SD) | 13.03 (4.20) | 14.80 (2.47) | 0.0473 |
95% CI | 11.52–14.55 | 13.95–15.65 | ||
Median | 15.5 | 16.0 | ||
Min–Max | 0.0–16.0 | 6.0–16.0 |
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Venegas, E.; Langeveld, S.; Ahring, K.; Benitez, R.; Desloovere, A.; Dios, E.; Gómez, E.; Hermida, A.; Marsaux, C.; Verloo, P.; et al. Nutrient Status and Intakes of Adults with Phenylketonuria. Nutrients 2024, 16, 2724. https://doi.org/10.3390/nu16162724
Venegas E, Langeveld S, Ahring K, Benitez R, Desloovere A, Dios E, Gómez E, Hermida A, Marsaux C, Verloo P, et al. Nutrient Status and Intakes of Adults with Phenylketonuria. Nutrients. 2024; 16(16):2724. https://doi.org/10.3390/nu16162724
Chicago/Turabian StyleVenegas, Eva, Simone Langeveld, Kirsten Ahring, Rosa Benitez, An Desloovere, Elena Dios, Eva Gómez, Alvaro Hermida, Cyril Marsaux, Patrick Verloo, and et al. 2024. "Nutrient Status and Intakes of Adults with Phenylketonuria" Nutrients 16, no. 16: 2724. https://doi.org/10.3390/nu16162724
APA StyleVenegas, E., Langeveld, S., Ahring, K., Benitez, R., Desloovere, A., Dios, E., Gómez, E., Hermida, A., Marsaux, C., Verloo, P., & Couce, M.-L. (2024). Nutrient Status and Intakes of Adults with Phenylketonuria. Nutrients, 16(16), 2724. https://doi.org/10.3390/nu16162724