Ismail Mucahit Alptekin
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Research Subjects
Ismail Mucahit Alptekin has a total of 41 co-authors. Here are the top co-authors by number of shared publications:
- Funda Pınar Çakiroğlu
Faculty of Health Sciences, Department of Nutrition and Dietetics, Ankara University, Ankara, Turkey
3 shared publications - Alberto Burlina
Division of Inherited Metabolic Diseases, University Hospital of Padua, Padua, Italy
1 shared publication - Alessandro P. Burlina
Neurology Unit, St Bassiano Hospital, 36061 Bassano del Grappa, Italy
1 shared publication - András Gellért Barta
Department of Internal Medicine and Oncology, Semmelweis University, Budapest, Hungary
1 shared publication Beren Kozlak
Institute of Health Sciences, Ataturk University, Erzurum, Türkiye
1 shared publication- Burçin Melike Küçüközkan
Atatürk Universitesi
1 shared publication
Latest Publications
- Open Access
- 8 May 2026
- Published by Springer Nature in Pediatric Research
- Vol. 100 (3) , 1-9
Dietary Inflammatory Index and cardiometabolic and inflammatory profiles in children and adolescents with type 1 diabetes: a cross-sectional study
Background: Nutritional management is central to pediatric type 1 diabetes (T1DM). The Dietary Inflammatory Index (DII) quantifies the inflammatory potential of diet, but evidence in pediatric T1DM remains limited. This study evaluated whether higher DII scores are associated with poorer glycemic control and adverse inflammatory profiles in children and adolescents with T1DM. Methods: Seventy-eight pediatric patients with T1DM (5–19 years; 59.0% girls) were evaluated using 3-day dietary records, anthropometry, and biomarkers including HbA1c, lipid profile, and inflammatory/adipokine markers (CRP, IL-6, TNF-α, leptin, adiponectin). DII scores were calculated from dietary intake data. Associations between DII and outcomes were tested using covariate-adjusted general linear models controlling for age, sex, BMI, energy intake, and diabetes duration. Results: In adjusted models, higher DII was independently associated with higher HbA1c (B = 0.48; 95% CI 0.32–0.63; p < 0.001), LDL-C (B = 7.62; 95% CI 5.36–9.87; p < 0.001), TNF-α (B = 150.58; 95% CI 127.99–173.17; p < 0.001), and leptin (B = 730.60; 95% CI 629.14–832.06; p < 0.001), and with lower adiponectin (B = − 70.15; 95% CI − 79.93 to −60.37; p < 0.001). Higher DII showed greater energy, total fat, saturated fat, and cholesterol, and lower fiber, vitamin A, omega-3, vitamin E, and β-carotene. Conclusions: More pro-inflammatory dietary profiles were associated with worse metabolic control and higher inflammatory burden, supporting DII as a clinically relevant dimension in pediatric T1DM nutritional assessment. Impact: In children/adolescents with T1DM, higher DII is linked to poorer metabolic status, worse glycemic control, and higher BMI/body-composition risk markers. In covariate-adjusted models, higher DII is independently associated with higher HbA1c and LDL-C and with an unfavorable adipokine/inflammatory profile (higher TNF-α and leptin, lower adiponectin). These associations persist after adjusting for age, sex, BMI, energy intake, and diabetes duration, indicating an independent association with cardiometabolic/inflammatory burden. Nutrition care may incorporate dietary inflammatory potential alongside carbohydrate counting; more fiber, unsaturated fats/omega-3, antioxidants; less saturated/ultra-processed foods may be relevant to prospective/interventional testing, potentially to improve long-term pediatric outcomes.
- 8 May 2026
- Published by Springer Nature in Pediatric Research
- Vol. 100 (3) , 1-9
Open AccessDietary Inflammatory Index and cardiometabolic and inflammatory profiles in children and adolescents with type 1 diabetes: a cross-sectional study
Background: Nutritional management is central to pediatric type 1 diabetes (T1DM). The Dietary Inflammatory Index (DII) quantifies the inflammatory potential of diet, but evidence in pediatric T1DM remains limited. This study evaluated whether higher DII scores are associated with poorer glycemic control and adverse inflammatory profiles in children and adolescents with T1DM. Methods: Seventy-eight pediatric patients with T1DM (5–19 years; 59.0% girls) were evaluated using 3-day dietary records, anthropometry, and biomarkers including HbA1c, lipid profile, and inflammatory/adipokine markers (CRP, IL-6, TNF-α, leptin, adiponectin). DII scores were calculated from dietary intake data. Associations between DII and outcomes were tested using covariate-adjusted general linear models controlling for age, sex, BMI, energy intake, and diabetes duration. Results: In adjusted models, higher DII was independently associated with higher HbA1c (B = 0.48; 95% CI 0.32–0.63; p < 0.001), LDL-C (B = 7.62; 95% CI 5.36–9.87; p < 0.001), TNF-α (B = 150.58; 95% CI 127.99–173.17; p < 0.001), and leptin (B = 730.60; 95% CI 629.14–832.06; p < 0.001), and with lower adiponectin (B = − 70.15; 95% CI − 79.93 to −60.37; p < 0.001). Higher DII showed greater energy, total fat, saturated fat, and cholesterol, and lower fiber, vitamin A, omega-3, vitamin E, and β-carotene. Conclusions: More pro-inflammatory dietary profiles were associated with worse metabolic control and higher inflammatory burden, supporting DII as a clinically relevant dimension in pediatric T1DM nutritional assessment. Impact: In children/adolescents with T1DM, higher DII is linked to poorer metabolic status, worse glycemic control, and higher BMI/body-composition risk markers. In covariate-adjusted models, higher DII is independently associated with higher HbA1c and LDL-C and with an unfavorable adipokine/inflammatory profile (higher TNF-α and leptin, lower adiponectin). These associations persist after adjusting for age, sex, BMI, energy intake, and diabetes duration, indicating an independent association with cardiometabolic/inflammatory burden. Nutrition care may incorporate dietary inflammatory potential alongside carbohydrate counting; more fiber, unsaturated fats/omega-3, antioxidants; less saturated/ultra-processed foods may be relevant to prospective/interventional testing, potentially to improve long-term pediatric outcomes.
- 25 March 2026
- Published by Gumushane University in Gümüşhane Üniversitesi Sağlık Bilimleri Dergisi
- Vol. 15 (1) , 53-66
Relationships Among Screen Time, Nutrient Intake, and Eating Behaviors in Preschool and School-Aged Children: A Cross-Sectional Study
This cross-sectional study investigated the relationship between screen time and dietary intake in 580 preschool and school-aged children aged 4–10 years. Nutrient intakes were compared with European Food Safety Authority Dietary Reference Values, and eating behaviors were assessed using the Children’s Eating Behaviour Questionnaire. Associations were examined using multivariable logistic regression, adjusting for sex, age, body mass index, maternal age, education, and household income. High screen time was more prevalent in older children (60% vs 37%) and clustered with personal device ownership and eating while using screens. Among 7–10-year-olds, ≥2 h/day of screen time was associated with higher total energy intake (1470 vs 1331 kcal/day, p=0.001), carbohydrate (175 vs 156.7 g/day, p
- 25 March 2026
- Published by Gumushane University in Gümüşhane Üniversitesi Sağlık Bilimleri Dergisi
- Vol. 15 (1) , 53-66
Relationships Among Screen Time, Nutrient Intake, and Eating Behaviors in Preschool and School-Aged Children: A Cross-Sectional Study
This cross-sectional study investigated the relationship between screen time and dietary intake in 580 preschool and school-aged children aged 4–10 years. Nutrient intakes were compared with European Food Safety Authority Dietary Reference Values, and eating behaviors were assessed using the Children’s Eating Behaviour Questionnaire. Associations were examined using multivariable logistic regression, adjusting for sex, age, body mass index, maternal age, education, and household income. High screen time was more prevalent in older children (60% vs 37%) and clustered with personal device ownership and eating while using screens. Among 7–10-year-olds, ≥2 h/day of screen time was associated with higher total energy intake (1470 vs 1331 kcal/day, p=0.001), carbohydrate (175 vs 156.7 g/day, p
- 15 March 2026
- Published by Springer Nature in Journal of Consumer Protection and Food Safety
- Vol. 21 (3) , 1-14
Consumer acceptance of cultured meat and its determinants among Turkish adults
- 15 March 2026
- Published by Springer Nature in Journal of Consumer Protection and Food Safety
- Vol. 21 (3) , 1-14
Consumer acceptance of cultured meat and its determinants among Turkish adults
- 30 December 2025
- Published by Erciyes Universitesi (DergiPark) in Sağlık Bilimleri Dergisi
- Vol. 34 (3) , 317-325
Effects of Inulin Addition on Probiotic Proliferation and Physicochemical Properties in Fat-Free Synbiotic Yogurt Production
The aim of the current study was to investigate the effects of the addition of inulin to yoghurt produced with fat-free milk on the viability of bacteria (Lactobacillus acidophilus), sensory quality, and physical properties. Inulin was added at four different percentages to yoghurts (0%; IN0, 4%; IN4, 8%; IN8, and 12%; IN12). Yoghurts were produced with fat-free milk, inulin and starter cultures containing Lactobacillus acidophilus, Lactobacillus delbrueckii ssp bulgaricus, Bifidobacterium lactis and Streptococcus thermophilus. Viscosity, pH, bacterial counting (Lactobacillus acidophilus) and sensory evaluation were performed. Also, the sensory evaluation was performed as single-blind in terms of appearance, flavor, smell, color, creaminess, texture and consistency with 20 trained panelists. The addition of inulin increased the viscosity (p
- 30 December 2025
- Published by Erciyes Universitesi (DergiPark) in Sağlık Bilimleri Dergisi
- Vol. 34 (3) , 317-325
Effects of Inulin Addition on Probiotic Proliferation and Physicochemical Properties in Fat-Free Synbiotic Yogurt Production
The aim of the current study was to investigate the effects of the addition of inulin to yoghurt produced with fat-free milk on the viability of bacteria (Lactobacillus acidophilus), sensory quality, and physical properties. Inulin was added at four different percentages to yoghurts (0%; IN0, 4%; IN4, 8%; IN8, and 12%; IN12). Yoghurts were produced with fat-free milk, inulin and starter cultures containing Lactobacillus acidophilus, Lactobacillus delbrueckii ssp bulgaricus, Bifidobacterium lactis and Streptococcus thermophilus. Viscosity, pH, bacterial counting (Lactobacillus acidophilus) and sensory evaluation were performed. Also, the sensory evaluation was performed as single-blind in terms of appearance, flavor, smell, color, creaminess, texture and consistency with 20 trained panelists. The addition of inulin increased the viscosity (p
- Open Access
- 17 October 2025
- Published by Springer Nature in BMC Public Health
- Vol. 25 (1) , 1-13
Association of dieting self-efficacy, weight management nutrition knowledge, physical activity, and dietary pattern among Turkish adults: a cross-sectional study
Unhealthy diets and obesity are major contributors to noncommunicable diseases worldwide. Dieting self-efficacy and nutrition knowledge are believed to influence eating behavior; however, their combined effect on dietary pattern is not well understood. This study aimed to examine the relationship between dieting self-efficacy, weight management-related nutrition knowledge, and dietary pattern among adults. This cross-sectional study recruited 1457 adults (aged 19–64) from Erzurum, Türkiye. Participants completed validated measures assessing dieting self-efficacy (DIET-SE), weight management nutrition knowledge (WMNKQ), and dietary intake using a brief food frequency questionnaire. A dietary pattern score was derived using principal component analysis (PCA). Physical activity was assessed using the International Physical Activity Questionnaire–Short Form (IPAQ-SF). Partial Spearman correlations (adjusting for age and sex), multiple linear regressions, and path analysis were conducted to examine associations and mediation effects. The sample had a median age of 24 years, and 10.2% were obese. DIET-SE and WMNKQ scales showed high internal reliability (Cronbach’s α ≥ 0.72). Nutrition knowledge was positively correlated with self-efficacy (ρ = 0.12, p < 0.01); however, both were inversely associated with dietary pattern (ρ = -0.22 and − 0.15, respectively; p < 0.01). Regression analyses confirmed that higher DIET-SE and WMNKQ scores independently predicted poorer dietary pattern (β = -0.21 and − 0.13; p < 0.001). Female sex, higher education, and income were positively associated with WMNKQ scores, while age negatively predicted dietary pattern. Path analysis supported a partial mediation model: WMNKQ positively predicted DIET-SE (β = 0.13), which was negatively associated with dietary pattern (β = -0.20). The results demonstrated that participants with higher weight-management knowledge and dieting self-efficacy had lower overall dietary pattern. These findings highlight that knowledge alone is not enough to ensure healthy eating, and that self-efficacy must be properly directed.
- 17 October 2025
- Published by Springer Nature in BMC Public Health
- Vol. 25 (1) , 1-13
Open AccessAssociation of dieting self-efficacy, weight management nutrition knowledge, physical activity, and dietary pattern among Turkish adults: a cross-sectional study
Unhealthy diets and obesity are major contributors to noncommunicable diseases worldwide. Dieting self-efficacy and nutrition knowledge are believed to influence eating behavior; however, their combined effect on dietary pattern is not well understood. This study aimed to examine the relationship between dieting self-efficacy, weight management-related nutrition knowledge, and dietary pattern among adults. This cross-sectional study recruited 1457 adults (aged 19–64) from Erzurum, Türkiye. Participants completed validated measures assessing dieting self-efficacy (DIET-SE), weight management nutrition knowledge (WMNKQ), and dietary intake using a brief food frequency questionnaire. A dietary pattern score was derived using principal component analysis (PCA). Physical activity was assessed using the International Physical Activity Questionnaire–Short Form (IPAQ-SF). Partial Spearman correlations (adjusting for age and sex), multiple linear regressions, and path analysis were conducted to examine associations and mediation effects. The sample had a median age of 24 years, and 10.2% were obese. DIET-SE and WMNKQ scales showed high internal reliability (Cronbach’s α ≥ 0.72). Nutrition knowledge was positively correlated with self-efficacy (ρ = 0.12, p < 0.01); however, both were inversely associated with dietary pattern (ρ = -0.22 and − 0.15, respectively; p < 0.01). Regression analyses confirmed that higher DIET-SE and WMNKQ scores independently predicted poorer dietary pattern (β = -0.21 and − 0.13; p < 0.001). Female sex, higher education, and income were positively associated with WMNKQ scores, while age negatively predicted dietary pattern. Path analysis supported a partial mediation model: WMNKQ positively predicted DIET-SE (β = 0.13), which was negatively associated with dietary pattern (β = -0.20). The results demonstrated that participants with higher weight-management knowledge and dieting self-efficacy had lower overall dietary pattern. These findings highlight that knowledge alone is not enough to ensure healthy eating, and that self-efficacy must be properly directed.
- 3 December 2024
- Published by Turkish Dietetic Association Partner in Journal of Nutrition and Dietetics
- p. 1-11
Yetişkin Bireylerin Çeşitli Özellikleri ile Gıda Tiksinmeleri Arasındaki İlişki Üzerine Bir Araştırma: Türkiye Örneği
Amaç: Bu çalışmada Türkiye’deki yetişkin bireylerin çeşitli özellikleri ile gıda tiksinme durumları arasındaki ilişkinin incelenmesi amaçlanmıştır. Bireyler ve Yöntem: Çalışmaya Haziran-Aralık 2023 tarihleri arasında Türkiye’de yaşayan 639 gönüllü yetişkin birey katılmıştır. Katılımcılara 13 adet demografik ve genel bilgi sorusu, 9 adet beslenme alışkanlıklarını belirleyen bilgi sorusu ve 32 sorudan oluşan “Gıda Tiksinme Ölçeğini (Food Disgust Scale-FDS)” içeren anket formu online ortamda uygulanmıştır. Çalışmada elde edilen cinsiyet, yaş, eğitim ve gelir durumu gibi demografik verilerin yanı sıra çeşitli beslenme alışkanlıkları, Beden Kütle İndeksi (BKİ) gibi değişkenler ile gıda tiksinme ölçeği skorları arasındaki ilişki incelenmiştir. Bulgular: Çalışmaya katılan bireylerin yaş ortalaması 25.8±7.4 yıl olup büyük çoğunluğunu 18-24 yaş aralığında (%66.8), kadın (%77.5) ve bekar (%78.6) bireyler oluşturmaktadır. Yapılan istatistiksel analizde kadınların (p<0.001), 18-24 yaş arası olanların (p<0.05), bekarların (p<0.001), herhangi bir işte çalışmayanların (p<0.05) ölçeğin birçok alt boyutunda ve toplamda gıda tiksinme ölçeği skorları daha yüksek olarak tespit edilmiştir. Daha önce besin zehirlenmesi yaşayanların gıda tiksinme ölçeği skorları daha düşük olarak bulunmuştur (p0.05). Normal BKİ aralığında olan bireylerin fazla kilolu ve obez bireylere kıyasla daha yüksek gıda tiksinme skoruna sahip olduğu tespit edilmiştir (p0.05). Sonuç: Bu çalışmada yetişkin bireylerin çeşitli özelliklerinin gıda tiksinmesi ile ilişkisi incelenmiş olup birçok faktörle gıda tiksinmesi arasında istatistiksel olarak anlamlı ilişkiler bulunmuştur. Gıda tiksinmesinin temelinde birçok neden yatmakla birlikte hijyenik açıdan insan sağlığı için önemli bir savunma mekanizmasıdır. Ancak tiksinme davranışlarını tetikleyen faktörler bireyin yeme bozuklukları ile karşılaşmasına yol açabilir. Bu nedenle beslenme eğitiminin yaygınlaştırılması ve temel düzeyden uygulanması gerekmektedir.
- 3 December 2024
- Published by Turkish Dietetic Association Partner in Journal of Nutrition and Dietetics
- p. 1-11
Yetişkin Bireylerin Çeşitli Özellikleri ile Gıda Tiksinmeleri Arasındaki İlişki Üzerine Bir Araştırma: Türkiye Örneği
Amaç: Bu çalışmada Türkiye’deki yetişkin bireylerin çeşitli özellikleri ile gıda tiksinme durumları arasındaki ilişkinin incelenmesi amaçlanmıştır. Bireyler ve Yöntem: Çalışmaya Haziran-Aralık 2023 tarihleri arasında Türkiye’de yaşayan 639 gönüllü yetişkin birey katılmıştır. Katılımcılara 13 adet demografik ve genel bilgi sorusu, 9 adet beslenme alışkanlıklarını belirleyen bilgi sorusu ve 32 sorudan oluşan “Gıda Tiksinme Ölçeğini (Food Disgust Scale-FDS)” içeren anket formu online ortamda uygulanmıştır. Çalışmada elde edilen cinsiyet, yaş, eğitim ve gelir durumu gibi demografik verilerin yanı sıra çeşitli beslenme alışkanlıkları, Beden Kütle İndeksi (BKİ) gibi değişkenler ile gıda tiksinme ölçeği skorları arasındaki ilişki incelenmiştir. Bulgular: Çalışmaya katılan bireylerin yaş ortalaması 25.8±7.4 yıl olup büyük çoğunluğunu 18-24 yaş aralığında (%66.8), kadın (%77.5) ve bekar (%78.6) bireyler oluşturmaktadır. Yapılan istatistiksel analizde kadınların (p<0.001), 18-24 yaş arası olanların (p<0.05), bekarların (p<0.001), herhangi bir işte çalışmayanların (p<0.05) ölçeğin birçok alt boyutunda ve toplamda gıda tiksinme ölçeği skorları daha yüksek olarak tespit edilmiştir. Daha önce besin zehirlenmesi yaşayanların gıda tiksinme ölçeği skorları daha düşük olarak bulunmuştur (p0.05). Normal BKİ aralığında olan bireylerin fazla kilolu ve obez bireylere kıyasla daha yüksek gıda tiksinme skoruna sahip olduğu tespit edilmiştir (p0.05). Sonuç: Bu çalışmada yetişkin bireylerin çeşitli özelliklerinin gıda tiksinmesi ile ilişkisi incelenmiş olup birçok faktörle gıda tiksinmesi arasında istatistiksel olarak anlamlı ilişkiler bulunmuştur. Gıda tiksinmesinin temelinde birçok neden yatmakla birlikte hijyenik açıdan insan sağlığı için önemli bir savunma mekanizmasıdır. Ancak tiksinme davranışlarını tetikleyen faktörler bireyin yeme bozuklukları ile karşılaşmasına yol açabilir. Bu nedenle beslenme eğitiminin yaygınlaştırılması ve temel düzeyden uygulanması gerekmektedir.
- 3 October 2024
- Published by Taylor & Francis in International Journal of Food Sciences and Nutrition
- Vol. 75 (8) , 800-811
Inulin may prevent the high-fat diet induced-obesity via suppressing endocannabinoid system in the prefrontal cortex in Wistar rats
High-fat diets contribute to various metabolic disorders. Inulin supplementation has been shown to reduce appetite, lower food intake, and promote weight loss. Although there is evidence that the endocannabinoid system has metabolic effects in the prefrontal cortex, studies investigating the effects of inulin on the endocannabinoid system are limited. This study investigated the impact of inulin on obesity through the endocannabinoid system in the prefrontal cortex. Twenty-four male Wistar rats were fed one of four diets over 12 weeks. Findings indicated that a high-fat diet led to obesity, whereas inulin reduced food intake and supported weight loss. Consequently, inulin supplementation both prevented obesity and significantly decreased the expressions of Adrb3 and Adcy1, and anandamide and 2-arachidonylglycerol levels in the prefrontal cortex. Additionally, inulin lowered leptin in circulation and stimulated Trpv1. Thus, inulin may mitigate obesity development, possibly by modulating gene expressions linked to obesity in the prefrontal cortex via endocannabinoids.
- 3 October 2024
- Published by Taylor & Francis in International Journal of Food Sciences and Nutrition
- Vol. 75 (8) , 800-811
Inulin may prevent the high-fat diet induced-obesity via suppressing endocannabinoid system in the prefrontal cortex in Wistar rats
High-fat diets contribute to various metabolic disorders. Inulin supplementation has been shown to reduce appetite, lower food intake, and promote weight loss. Although there is evidence that the endocannabinoid system has metabolic effects in the prefrontal cortex, studies investigating the effects of inulin on the endocannabinoid system are limited. This study investigated the impact of inulin on obesity through the endocannabinoid system in the prefrontal cortex. Twenty-four male Wistar rats were fed one of four diets over 12 weeks. Findings indicated that a high-fat diet led to obesity, whereas inulin reduced food intake and supported weight loss. Consequently, inulin supplementation both prevented obesity and significantly decreased the expressions of Adrb3 and Adcy1, and anandamide and 2-arachidonylglycerol levels in the prefrontal cortex. Additionally, inulin lowered leptin in circulation and stimulated Trpv1. Thus, inulin may mitigate obesity development, possibly by modulating gene expressions linked to obesity in the prefrontal cortex via endocannabinoids.
- Open Access
- 22 September 2023
- Published by Springer Nature in Orphanet Journal of Rare Diseases
- Vol. 18 (1) , 1-12
Health-related quality of life in a european sample of adults with early-treated classical PKU
Background: Phenylketonuria (PKU) is a rare inborn error of metabolism affecting the catabolism of phenylalanine (Phe). To date, findings regarding health-related quality of life (HRQoL) in adults with early-treated classical PKU are discrepant. Moreover, little is known about metabolic, demographic, and cognitive factors associated with HRQoL. Hence, we aimed to investigate HRQoL and its association with demographic, metabolic, and cognitive characteristics in a large European sample of adults with early-treated classical PKU.Results: This cross-sectional study included 124 adults with early-treated classical PKU from Hungary, Italy, Spain, Switzerland, and Turkey. All participants prospectively completed the PKU quality of life questionnaire (PKU-QoL), a questionnaire specifically designed to evaluate the impact of PKU and its treatment on HRQoL in individuals with PKU. In addition, information about Phe levels (concurrent and past year), demographic (age and sex), and cognitive variables (intelligence quotient, IQ) were collected. Most domains revealed little or no impact of PKU on HRQoL and more than three-quarters of the patients rated their health status as good, very good, or excellent. Nevertheless, some areas of concern for patients were identified. Patients were worried about the guilt that they experience if they do not adhere to the dietary protein restriction and they were most concerned about high Phe levels during pregnancy. Further, tiredness was the most affected symptom, and the supplements’ taste was considered a main issue for individuals with PKU. The overall impact of PKU on HRQoL was higher in women (U = 1315.5,p = .012) and in adults with a lower IQ (rs = − 0.448,p = .005). The overall impact of dietary protein restriction was higher in adults with higher concurrent Phe levels (rs= 0.272,p = .007) and higher Phe levels during the past year (rs= 0.280,p = .009).Conclusion: The impact of PKU on most domains assessed in the PKU-QoL was considered to be low. These results likely reflect the successful implementation of the newborn screening resulting in the prevention of severe adverse long-term outcomes. However, a particular clinical focus should be given to patients with lower IQ, higher Phe levels, and women, as these variables were associated with a lower HRQoL.
- 22 September 2023
- Published by Springer Nature in Orphanet Journal of Rare Diseases
- Vol. 18 (1) , 1-12
Open AccessHealth-related quality of life in a european sample of adults with early-treated classical PKU
Background: Phenylketonuria (PKU) is a rare inborn error of metabolism affecting the catabolism of phenylalanine (Phe). To date, findings regarding health-related quality of life (HRQoL) in adults with early-treated classical PKU are discrepant. Moreover, little is known about metabolic, demographic, and cognitive factors associated with HRQoL. Hence, we aimed to investigate HRQoL and its association with demographic, metabolic, and cognitive characteristics in a large European sample of adults with early-treated classical PKU.Results: This cross-sectional study included 124 adults with early-treated classical PKU from Hungary, Italy, Spain, Switzerland, and Turkey. All participants prospectively completed the PKU quality of life questionnaire (PKU-QoL), a questionnaire specifically designed to evaluate the impact of PKU and its treatment on HRQoL in individuals with PKU. In addition, information about Phe levels (concurrent and past year), demographic (age and sex), and cognitive variables (intelligence quotient, IQ) were collected. Most domains revealed little or no impact of PKU on HRQoL and more than three-quarters of the patients rated their health status as good, very good, or excellent. Nevertheless, some areas of concern for patients were identified. Patients were worried about the guilt that they experience if they do not adhere to the dietary protein restriction and they were most concerned about high Phe levels during pregnancy. Further, tiredness was the most affected symptom, and the supplements’ taste was considered a main issue for individuals with PKU. The overall impact of PKU on HRQoL was higher in women (U = 1315.5,p = .012) and in adults with a lower IQ (rs = − 0.448,p = .005). The overall impact of dietary protein restriction was higher in adults with higher concurrent Phe levels (rs= 0.272,p = .007) and higher Phe levels during the past year (rs= 0.280,p = .009).Conclusion: The impact of PKU on most domains assessed in the PKU-QoL was considered to be low. These results likely reflect the successful implementation of the newborn screening resulting in the prevention of severe adverse long-term outcomes. However, a particular clinical focus should be given to patients with lower IQ, higher Phe levels, and women, as these variables were associated with a lower HRQoL.