Overweight and Associated Factors in Children and Adolescents With Phenylketonuria: A Systematic Review

Sena, Berilany dos Santos; Andrade, Maria Izabel Siqueira de; Silva, Ana Paula Ferreira da; Dourado, Keila Fernandes; Silva, Andressa Laís Ferreira

doi:10.1590/1984-0462/2020/38/2018201

Cited by 11 publications

(9 citation statements)

References 42 publications

(52 reference statements)

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“…Furthermore, a frequent prevalence of being overweight was described in another systematic review [ 110 ] ranging from 7.8 to 32.6% in children and adolescents with PKU, which is also consistent with our findings (23%).…”

Section: Discussionsupporting

confidence: 93%

Burden of phenylketonuria in Latin American patients: a systematic review and meta-analysis of observational studies

Pessoa

Martins

Ribeiro

et al. 2022

Orphanet J Rare Dis

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Background Phenylketonuria (PKU) is an inborn error of metabolism caused by a deficiency of the enzyme phenylalanine hydroxylase. If untreated, the complications of PKU lead to significant neucognitive and neuropsychiatric impairments, placing a burden on both the individual’s quality of life and on the healthcare system. We conducted a systematic literature review to characterize the impact of PKU on affected individuals and on healthcare resources in Latin American (LATAM) countries. Methods Searches of the global medical literature as well as regional and local medical literature up to September 2021. Observational studies on patients with PKU from any LATAM country. Pairs of reviewers independently screened eligible articles, extracted data from included studies, and assessed their risk of bias. Results 79 unique studies (47 cross-sectional studies, 18 case series, 12 case reports, and two cohort studies) with a total of 4090 patients were eligible. Of these studies, 20 had data available evaluating early-diagnosed PKU patients for meta-analysis of burden outcomes. Intellectual disability in the pooled studies was 18% [95% Confidence Interval (CI) 0.04–0.38; I2 = 83.7%, p = 0.0133; two studies; n = 114]. Motor delay was 15% [95% CI 0.04–0.30; I2 = 74.5%, p = 0.0083; four studies; n = 132]. Speech deficit was 35% [95% CI 0.08–0.68; I2 = 93.9%, p < 0.0001; five studies; n = 162]. Conclusions There is currently evidence of high clinical burden in PKU patients in LATAM countries. Recognition that there are many unmet neuropsychological needs and socioeconomic challenges faced in the LATAM countries is the first step in planning cost-effective interventions.

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Section: Discussionsupporting

confidence: 93%

Burden of phenylketonuria in Latin American patients: a systematic review and meta-analysis of observational studies

Pessoa

Martins

Ribeiro

et al. 2022

Orphanet J Rare Dis

View full text Add to dashboard Cite

show abstract

“…Furthermore, a frequent prevalence of being overweight was described in another systematic review [115] ranging from 7.8 to 32.6% in children and adolescents with PKU, which is also consistent with our ndings (23%).…”

Section: Relation To Prior Researchsupporting

confidence: 92%

Burden of phenylketonuria in Latin American patients: A systematic review and meta-analysis of observational studies

Pessoa

Martins

Ribeiro

et al. 2022

Preprint

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Background: Phenylketonuria (PKU) is an inborn error of metabolism caused by a deficiency of the enzyme phenylalanine hydroxylase. If untreated, the complications of PKU lead to significant neucognitive and neuropsychiatric impairments, placing a burden on both the individual’s quality of life and on the healthcare system. We conducted a systematic literature review to characterize the impact of PKU on affected individuals and on healthcare resources in Latin American (LATAM) countries.Methods: Searches of the global medical literature as well as regional and local medical literature up to September 2021. Observational studies on patients with PKU from any LATAM country. Pairs of reviewers independently screened eligible articles, extracted data from included studies, and assessed their risk of bias. Results: 79 unique studies (47 cross-sectional studies, 18 case series, 12 case reports, and two cohort studies) with a total of 4,090 patients were eligible. Of these studies, 20 had data available evaluating early-diagnosed PKU patients for meta-analysis of burden outcomes. Intellectual disability in the pooled studies was 18% [95% Confidence Interval (CI) 0.04 to 0.38; I2 = 83.7%, p = 0.0133; two studies; n = 114]. Motor delay was 15% [95% CI 0.04 to 0.30; I2 = 74.5%, p = 0.0083; four studies; n = 132]. Speech deficit was 35% [95% CI 0.08 to 0.68; I2 = 93.9%, p < 0.0001; five studies; n = 162].Conclusions: There is currently evidence of high clinical burden in PKU patients in LATAM countries. Recognition that there are many unmet neuropsychological needs and socioeconomic challenges faced in the LATAM countries is the first step in planning cost-effective interventions.

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“…These data of overweight in schoolchildren are similar to those previously reported by Scaglioni et al that showed an association between BMI rebound and overweight at 8 years in HPA patients [ 41 ]. In Mexico, there are different factors associated with overweight in childhood, such as: high consumption of sugary drinks, sedentary activities and a diet rich in fat and carbohydrates [ 42 ]; a recent systematic review of overweight in PKU children also found a high caloric intake and lack of physical activity as possible causal factors [ 43 ]. Moreover, it is known that obesity represents one of the most frequent comorbidities in HPA/PKU patients [ 44 , 45 , 46 ], which indicates the necessity of a closer nutritional follow-up and new therapeutic approaches.…”

Section: Discussionmentioning

confidence: 99%

The BMI Z-Score and Protein Energy Ratio in Early- and Late-Diagnosed PKU Patients from a Single Reference Center in Mexico

et al. 2023

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The relationship between protein and energy and their appropriate proportions in hyperphenylalaninemia (HPA) or phenylketonuria (PKU) patients in terms of growth have been poorly studied, especially in those diagnosed late. We aimed to describe the protein energy ratio (P:E) and its association with body mass index (BMI) in 638 dietetic and anthropometric assessments from 54 early- or late-diagnosed HPA/PKU patients. Dietetic and anthropometric data were analyzed and classified according to BMI Z-Score and type of diagnosis, early by newborn screening (NBS) or late. Correlation between BMI Z-Score and P:E ratio was established. Percent of dietary protein from Phe-free metabolic formula was analyzed. According to the BMI Z-Score, the majority of assessments were eutrophic (69.4%). The median P:E ratio was >4 in most of the overweight assessments. Remarkably, the underweight group consumed the highest proportion of Phe-free metabolic formula (74.5%). A positive correlation between BMI Z-Score and P:E ratio was found. The highest proportion of underweight was found in the late-diagnosed patients. Our findings might be related to their nutritional history previous to the HPA/PKU treatment. Thus, complex nutritional outcome of the late-diagnosed HPA/PKU patients deserves actions to guarantee the early diagnosis, closer nutritional follow-up and alternative therapeutic approaches.

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Overweight and Associated Factors in Children and Adolescents With Phenylketonuria: A Systematic Review

Cited by 11 publications

References 42 publications

Burden of phenylketonuria in Latin American patients: a systematic review and meta-analysis of observational studies

Burden of phenylketonuria in Latin American patients: a systematic review and meta-analysis of observational studies

Burden of phenylketonuria in Latin American patients: A systematic review and meta-analysis of observational studies

The BMI Z-Score and Protein Energy Ratio in Early- and Late-Diagnosed PKU Patients from a Single Reference Center in Mexico

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