Nonalcoholic fatty liver disease in adolescents with phenylketonuria

Abstract Objective: This study aimed to investigate non-alcoholic fatty liver disease (NAFLD) occurrence and factors associated with the disease in phenylketonuria (PKU) patients undergoing exclusive dietary treatment. Method: This cross-sectional study included 101 adolescents 10 to < 20 years of age with PKU, who were undergoing exclusive dietary treatment and monitored since early diagnosis at a single reference service. Anthropometric and biochemical assessments were performed and food intake was documented, and an ultrasound diagnosis of NAFLD was established. Data were evaluated using the Student's t-test for continuous variables, the chi-square for categorical variables, and logistic regression using the Wald chi-squared test; differences with p < 0.05 were considered to be statistically significant. Results: NAFLD was detected in 26 (25.7%) teenagers. There was no difference in prevalence between the sexes or nutritional status. The final logistic regression model revealed low sensitivity (26.1%) and high specificity (94.7%). The specificity suggested a lower likelihood of NAFLD in older adolescents, in the presence of normal or high levels of alkaline phosphatase, lower carbohydrate intake, and adequate protein and lipid intake. Conclusions: The prevalence of NAFLD in adolescents with PKU was higher than that found in healthy Brazilian adolescents and similar to that found in obese Brazilian children, suggesting a higher risk for NAFLD in patients with PKU treated exclusively by dietary modification.

Overweight/obesity in adolescents with phenylketonuria: protective and predisposing factors

Abstract Objective: To estimate the prevalence and factors associated with overweight/obesity development in adolescents with early diagnosed phenylketonuria treated exclusively by diet. Methodology: In this cross-sectional study anthropometric measurements, serum phenylalanine levels, and 10 metabolites associated with lipid and carbohydrate metabolism were analyzed in 101 adolescents aged 10-20 years. Adolescents were categorized into overweight/obesity and eutrophic/low body mass index groups. These patients were compared using Student's t-test, Pearson's chi-square test, Wald's chi-square test for multivariate analysis. Further, to verify whether the prevalence of overweight/obesity found in the study population was similar to that in the general population, the authors compared the nutritional status of 46 patients aged 13-17 years with that of healthy students of the same age from the National School Health Survey using the chi-square test for adherence. The significance threshold was p < 0.5. Results: The prevalence of overweight/obesity in adolescents was 27.7%. There was no difference in prevalence between sexes. Older age was a protective factor and Increased Homeostasis Model Assessment Insulin Resistance index and high phenylalanine and low-density lipoprotein cholesterol levels were predictive factors for overweight/obesity. The equality hypothesis was not rejected in the comparison of nutritional states of 46 patients aged 13-17 years and healthy students of the same age. Conclusion: The prevalence of overweight/obesity in phenylketonuria adolescents was similar to what is found in healthy adolescents.

BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia / Deficiências de BH4identificadas em um programa de triagem neonatal para hiperfenilalaninemias

Abstract Objectives To show the general prevalence and to characterize tetrahydrobiopterin (BH4) deficiencies with hyperphenylalaninemia, identified by the Neonatal Screening Program of the State of Minas Gerais. Methods Descriptive study of patients with BH4 deficiency identified by the Neonatal Screening Program of the State of Minas Gerais. Results The prevalence found was 2.1 for 1,000,000 live births, with a frequency of 1.71% among hyperphenylalaninemias. There were four cases (40%) with 6-pyruvoyl-tetrahydropterin synthase deficiency, three with GTP cyclohydrolase I - autosomal recessive form deficiency, and three with dihydropteridine reductase deficiency (30% each). Six patients were diagnosed due to clinical suspicion and four cases due to systematic screening in neonatal screening. After the start of the treatment, patients identified by neonatal screening had rapid improvement and improved neuropsychomotor development compared to those diagnosed by the medical history. Conclusions The prevalence of BH4 deficiencies in Minas Gerais was slightly higher than that found in the literature, but the frequency among hyperphenylalaninemias was similar. Although rare, they are severe diseases and, if left untreated, lead to developmental delays, abnormal movements, seizures, and premature death. Early treatment onset (starting before 5 months of age) showed good results in preventing intellectual disability, justifying the screening of these deficiencies in newborns with hyperphenylalaninemia identified at the neonatal screening programs for phenylketonuria.

Resumo Objetivos Apresentar a prevalência geral e caracterizar as deficiências de tetrahidrobiopterina - BH4 - com hiperfenilalaninemia, identificadas pelo Programa de Triagem Neonatal do Estadode Minas Gerais. Métodos Estudo descritivo de pacientes com deficiência de BH4 do Programa de Triagem Neonatal do Estado de Minas Gerais. Resultados A prevalência encontrada foi de 2,1 para 1.000.000 recém-nascidos vivos e a frequência de 1,71%, dentre as hiperfenilalaninemias. Quatro casos (40%) com deficiência de 6-piruvoil-tetrahidropterina sintase, três com deficiência de GTP ciclohidrolase I e três com deficiência de dihidropteridina redutase (30% cada um). Seis pacientes foram diagnosticadospor suspeita clínica e quatro pela pesquisa sistemática na triagem neonatal. Após o início do tratamento, os pacientes identificados pela triagem neonatal tiveram melhora rápida e melhor desenvolvimento neuropsicomotor em comparação com aqueles diagnosticados pela história clínica. Conclusões A prevalência das deficiências de BH4 em Minas Gerais foi um pouco maior que a encontrada na literatura, mas a frequência, entre as hiperfenilalaninemias, foi semelhante. Embora raras, são graves e, se não tratadas, levam a atraso de desenvolvimento, movimentos anormais, convulsões e morte precoce. O tratamento precoce (início antes dos 5 meses) mostrou bons resultados na prevenção de deficiência intelectual, justificando a pesquisa dessas deficiências nos recém-nascidos com hiperfenilalaninemia pelos programas de triagem neonatalpara fenilcetonúria.

Correction to: The action of herbal medicine on the libido: aspects of nutritional intervention in increasing sexual desire

Correction to: Nutrire (2017) 42:29 DOI: 10.1186/s41110-017-0051-0

The action of herbal medicine on the libido: aspects of nutritional intervention in increasing sexual desire

INTRODUCTION: The libido is considered to be a sexual drive in individuals that can be determined and influenced by several factors, such as social, psychological, and hormonal factors. It is known that nutritional aspects are important hormone regulators and that sexual dysfunction may, in many cases, be reversed with simple lifestyle changes. Aims: The aim of the study is to describe the actions of herbal medicine on the libido with an appropriate level of scientific evidence. METHODOLOGY: A systematic review of the PUBMED, Scielo, and EMBASE databases was conducted, using the keywords" libido, food, and nutrient." RESULTS: This study identified 2798 articles, 34 of which were selected, as they discussed exclusive studies involving herbal medicine. Some herbal medicines stood out, includingTribulus terrestris, used to increase testosterone serum levels; Eurycoma longifólia, which, in addition to the increased testosterone serum levels, also leads to an increased biosynthesis of several androgens; ginseng, which increases energy levels and stimulates smooth muscle relaxation withnitrous oxide; Maca (Lepidium meyenii), which improves sexual performance, in addition to having androgenic effects; and Mondia whitei (ginger), which improves the libido and erection. In addition to these, one study has demonstrated the effective impact of a hypocaloric, hyperproteic, and hypolipidemic diet on the libido, both improving sexual and erectile functions and increasing testosterone levels. CONCLUSION: Herbal medicine analyzed in this study demonstrate positive effects on the libido, thus proving that, along with nutritional intervention, it is also a promising field in nutrition actions that provide support to combat sexual dysfunctions

Desenvolvimento de receitas especiais para fenilcetonúricos / Development of special recipes for phenylketonuria

Objective: To systematize a route for the development of recipes with reduced phenylalanine and nutritional and sensory quality. Methods: A systematization of steps for the development of recipes was carried out based on the concepts of dietetics and cooking techniques, besides the pertinent literature. The development of recipes, performed in the laboratory, followed the steps of (1) definition of the objective ofeach culinary preparation; (2) choice of existing recipes that serve as starting points; (3) research of the ingredients allowed in the treatment of phenylketonuria, targeted at technological properties for replacement of eggs, milk and wheat flour; and (4) development and adaption of recipes with standardization of household measures. A nutritional analysis of the preparations was realized based on food composition tables; sensory acceptance tests were also conducted. Results: The preparationswere appropriate for phenylketonuria patients? consumption, because the average phenylalanine value found in each portion was 22.08mg and the scores obtained in the sensory tests were positive. The recipes were developed with ingredients such as fruits and vegetables and were low in fat, which contributed to the nutritional quality of the preparations. Conclusions: The systematization proposed favors the developmentof recipes for phenylketonuria patients with sensory and nutritional quality

Objetivo: Sistematizar um percurso para o desenvolvimento de receitas com redução de fenilalanina e com qualidade nutricional e sensorial. Métodos: Foi realizada sistematização das etapas para o desenvolvimento das receitas, com base nos conceitos da técnica dietética e da gastronomia, além da literatura pertinente. O desenvolvimento das receitas, realizado em laboratório, seguiu as etapas de (1) definição do objetivo decada preparação culinária; (2) escolha de receitas existentes que serviriam de ponto de partida; (3) pesquisa de ingredientes permitidos no tratamento da fenilcetonúria e com propriedades tecnológicas voltadas para a substituição de ovos, leite e farinha de trigo, e (4) desenvolvimento e adequação das receitas com padronização das medidas caseiras. A análise nutricional das preparações foi realizada a partir de tabelas de composição dos alimentos e, além disso, foram realizados testes sensoriais de aceitação. Resultados: As preparações apresentaram-se adequadas para consumo de pacientes fenilcetonúricos, uma vez que o valor médio de fenilalanina encontrado nas porções foi de 22,08mg e os escores alcançados nos testes sensoriais foram positivos. As receitas foram desenvolvidas com ingredientes, como frutas e vegetais, e com baixos teores de gordura, que contribuíram para a qualidade nutricional das preparações. Conclusões: A sistematização proposta favoreceu o desenvolvimento de receitas para fenilcetonúricos com qualidade sensorial e nutricional.