New insights in growth of phenylketonuric patients

Couce, María L.; Guler, Ipek; Anca-Couce, Andrés; Lojo, Marta; Mirás, Alicia; Leis, Rosaura; Pérez-Muñuzuri, Alejandro; Fraga, José M.; Gudé, Francisco

doi:10.1007/s00431-014-2446-8

Cited by 17 publications

(39 citation statements)

References 31 publications

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“…The type of carbohydrate is also an important health consideration. Insulin resistance measured by HOMA-IR (Homeostasis Model Assessment Insulin Resistance) has been shown to be higher in subjects with PKU [ 27 ], especially those who are overweight [ 27 ] or those with central obesity [ 28 ]. Similarly, the dietary glycaemic index and load was higher in children with PKU, suggesting a link between the quality of carbohydrate and peripheral insulin resistance [ 18 ].…”

Section: Discussionmentioning

confidence: 99%

A 3 Year Longitudinal Prospective Review Examining the Dietary Profile and Contribution Made by Special Low Protein Foods to Energy and Macronutrient Intake in Children with Phenylketonuria

et al. 2020

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The nutritional composition of special low protein foods (SLPFs) is controlled under EU legislation for ‘Foods for Special Medical Purposes (FSMP)’. They are designed to meet the energy needs of patients unable to eat a normal protein containing diet. In phenylketonuria (PKU), the macronutrient contribution of SLPFs has been inadequately examined. Aim: A 3-year longitudinal prospective study investigating the contribution of SLPFs to the macronutrient intake of children with early treated PKU. Methods: 48 children (27 boys) with a mean recruitment age of 9.3 y were studied. Semi-quantitative dietary assessments and food frequency questionnaires (FFQ) were collected three to four times/year for 3 years. Results: The mean energy intake provided by SLPFs was 33% (SD ± 8), and this figure was 42% (SD ± 13) for normal food and 21% (SD ± 5) for protein substitutes (PS). SLPFs supplied a mean intake of 40% carbohydrate (SD ± 10), 51% starch (SD ± 18), 21% sugar (SD ± 8), and 38% fat (SD ± 13). Fibre intake met 83% of the Scientific Advisory Committee on Nutrition (SACN) reference value, with 50% coming from SLPFs with added gums and hydrocolloids. Low protein bread, pasta and milk provided the highest energy contribution, and the intake of sweet SLPFs (e.g., biscuits, cakes, and chocolate) was minimal. Children averaged three portions fruit/vegetable daily, and children aged ≥ 12 y had irregular meal patterns. Conclusion: SLPFs provide essential energy in phenylalanine restricted diets. Optimising the nutritional quality of SLPFs deserves more attention.

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Section: Discussionmentioning

confidence: 99%

A 3 Year Longitudinal Prospective Review Examining the Dietary Profile and Contribution Made by Special Low Protein Foods to Energy and Macronutrient Intake in Children with Phenylketonuria

et al. 2020

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“…Some of the previous researches stated that affected individual undertaking low-phenylalanine diet showed growth retardation 13,14 . Other literature showed a correlation between low Phe diet adherence with overweight 1,5,7 or obesity. Recent studies even pointed out that there was no significant difference in growth and body composition between affected and normal individual [15][16][17][18] .…”

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confidence: 93%

“…Most of the PKU incidence has since then been diagnosed at the earliest stage after the implementation of newborn screening test 5 . This significantly reduces financial and family burdens national wide as early intervention is done to prevent further complications caused by PKU 6,7 . In Taiwan, patients with PAH deficiency tend to have milder phenotype and therefore high Phe tolerance 8 .…”

mentioning

confidence: 99%

Dietary intake and nutritional status of patients with phenylketonuria in Taiwan

Weng

Yang

Chen

et al. 2020

Sci Rep

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Phenylalanine hydroxylase (PAH) deficiency leads to phenylalanine accumulation and results in phenylketonuria (PKU). Phenylketonuria can contribute to severe inability such as mental impairment. Early diagnosis and dietary intervention can have beneficial effects on maintaining normal neural and cognitive function in patients with PKU. However, a long-term low phenylalanine diet may put children at risk of malnutrition. A food supplement was therefore used for children with PKU under dietician supervision according to dietary reference intakes (DRIs). In this cross-sectional study, we enrolled patients with PKU and age-matched controls to compare their anthropometry data [weight, height, body mass index (BMI), and body composition using bioelectrical impedance analysis (BIA)], and correlated it with their dietary intake based on 24-h dietary recall. For continuous parameters, the data were expressed as median ± standard deviation (SD), and the Mann-Whitney U test was used to test the difference among the groups. Correlation by natural proteins, body fat, and fat-free mass were evaluated using the Pearson correlation coefficient. Twenty-two participants diagnosed with PKU (ages 8-27 years; mean 15.23 ± 5.23) and a control group of 22 non-PKU participants (ages 8-39 years; mean 19.73 ± 10.6) were recruited for this study. Between the two groups of participants, no significant difference was found in height, weight, BMI, muscle mass, or fat mass. The percentage of natural protein has no effect on body composition. We found a significant positive correlation between the total protein intake percentage of DRIs and muscle mass (r = 0.491, p = 0.020) and a significant negative correlation in the total protein intake percentage of DRIs and fat mass (r =-0.475, p = 0.025) in participants with PKU. There were no significant differences in body composition and nutrition intake between patients with PKU (under metabolic control) and healthy subjects. Thus, giving proper nutrition treatment may have beneficial effects on body growth and nutrition status in patients with pKU in taiwan.

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“…Our study is one of the largest published national populations of early diagnosed and treated patients with HPA with complete age and gender corrected data in pediatric and adult age, which was analyzed for the demographic, anthropometric, metabolic, nutritional indicators and BMD ( 9 ). This study is one of the rare studies that compared the treated HPA patients to untreated HPA cohort with bHPA; other studies compared growth and BMI outcomes ( 22 ) and vitamin and mineral status ( 23 ) in similar groups of patients.…”

Section: Discussionmentioning

confidence: 99%

Anthropometry and bone mineral density in treated and untreated hyperphenylalaninemia

Tanšek

Bertoncel

Sebez

et al. 2020

Endocrine Connections

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Despite recent improvements in the composition of the diet, lower mineral bone density and overweight tendencies are incoherently described in patients with phenylketonuria (PKU). The impact of dietary factors and plasma phenylalanine levels on growth, body mass index, body composition, and bone mineral density was investigated in our cohort of patients with hyperphenylalaninemia (HPA) with or without dietary treatment. The anthropometric, metabolic, body mass index and other nutritional indicators and bone mineral density were compared between the group of 96 treated patients with PKU (58 classic PKU (cPKU) and 38 patients with moderate-mild PKU defined as non-classic PKU (non-cPKU)) and the untreated group of 62 patients with benign HPA. Having compared the treated and untreated groups, there were normal outcomes and no statistically significant differences in body mass index, body composition, and bone mineral density. Lower body height standard deviation scores were observed in the treated as compared to the untreated group (p <0.001), but the difference was not significant when analyzing patients older than 18 years; however, cPKU adults were shorter compared to non-cPKU treated adults (p=0.012). Interestingly, the whole-body fat was statistically higher in non-cPKU as compared to cPKU patients. In conclusion, the dietary treatment ensures adequate nutrition without significant consequences in body mass index, body composition, and bone mineral density. A low protein diet may delay the growth in childhood, but the treated patients gain a normal final height. Mild untreated hyperphenylalaninemia characteristic for benign HPA has no negative physiological effect on bone mineral density.

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New insights in growth of phenylketonuric patients

Cited by 17 publications

References 31 publications

A 3 Year Longitudinal Prospective Review Examining the Dietary Profile and Contribution Made by Special Low Protein Foods to Energy and Macronutrient Intake in Children with Phenylketonuria

A 3 Year Longitudinal Prospective Review Examining the Dietary Profile and Contribution Made by Special Low Protein Foods to Energy and Macronutrient Intake in Children with Phenylketonuria

Dietary intake and nutritional status of patients with phenylketonuria in Taiwan

Anthropometry and bone mineral density in treated and untreated hyperphenylalaninemia

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