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ResumoObjetivo: Avaliar o efeito do leite materno como fonte de fenilalanina (phe) nos níveis sangüíneos desse aminoácido e no crescimento de fenilcetonúricos. Métodos:Foram estudados 35 fenilcetonúricos que mantiveram leite materno, e os resultados foram comparados com os de 35 lactentes que usaram fórmula láctea comercial. Os grupos foram pareados por sexo e por idade à suspensão do aleitamento materno. Os dados foram analisados até a suspensão do leite materno ou durante 12 meses de acompanhamento. O grupo amamentado recebeu "fórmula especial" isenta em phe, em mamadeira a cada 3 horas, e leite materno em livre demanda nos intervalos. Os níveis sangüíneos de phe, coletados semanalmente até 6 meses e quinzenalmente até 1 ano de idade, foram analisados durante a amamentação. Foram comparados o tempo necessário para adequação dos níveis sangüíneos de phe, após o início do tratamento, utilizando o teste de Wilcoxon e os dados antropométricos, pelo teste t de Student pareado, utilizando o escore z. As dosagens de phe foram analisadas durante a amamentação.Resultados: O tempo mediano para adequação dos níveis de phe no sangue foi de 8 dias para o grupo amamentado e de 7 dias para o grupo controle. As dosagens de phe estavam adequadas em 87% das vezes para o grupo amamentado e em 74,4% para o grupo controle. Na avaliação antropométrica, a maioria das crianças, de ambos os grupos, apresentou escore z > -2. Conclusão:A manutenção do aleitamento materno, durante o tratamento, mostrou-se adequada no controle metabólico e no crescimento das crianças fenilcetonúricas. J Pediatr (Rio J). 2007;83(5):447-452:Aleitamento materno, fenilcetonúria, fenilalanina. AbstractObjective: To evaluate the effect of breastmilk as a source of phenylalanine (phe) on levels of this amino acid and on growth in phenylketonuric infants. Methods:The study recruited 35 breastfed phenylketonuric infants and compared their results with those of 35 infants fed on commercial, milk-based formula. The groups were paired for sex and age at weaning from breastfeeding. Data were analyzed up until cessation of breastmilk or for 12 months' follow-up. The breastfed group were given a "special formula" free of phe, by bottle every 3 hours, and breastmilk at will during the intervals. Levels of phe in the blood, collected weekly up to 6 months and fortnightly up to 1 year de age, were analyzed while breastfeeding continued. The two groups were compared in terms of the time taken for the levels of phe in blood to return to normal after treatment was started, using the Wilcoxon test. Anthropometric data were compared with Student's t paired test in the form of z scores. The phe assays were analyzed throughout breastfeeding. Results:The median time taken for phe levels to return to normal was 8 days for the breastfed group and 7 days for the control group. The phe assay results were normal in 87% of tests for the breastfed group and in 74.4% for the control group. The majority of children in both groups exhibited a z score > -2 on anthropometric examination. Conc...

Objective: To evaluate the effect of breastmilk as a source of phenylalanine (phe) on levels of this amino acid and on growth in phenylketonuric infants. Methods:The study recruited 35 breastfed phenylketonuric infants and compared their results with those of 35 infants fed on commercial, milk-based formula. The groups were paired for sex and age at weaning from breastfeeding.Data were analyzed up until cessation of breastmilk or for 12 months' follow-up. The breastfed group were given a "special formula" free of phe, by bottle every 3 hours, and breastmilk at will during the intervals. Levels of phe in the blood, collected weekly up to 6 months and fortnightly up to 1 year de age, were analyzed while breastfeeding continued.The two groups were compared in terms of the time taken for the levels of phe in blood to return to normal after treatment was started, using the Wilcoxon test. Anthropometric data were compared with Student's t paired test in the form of z scores. The phe assays were analyzed throughout breastfeeding. Results:The median time taken for phe levels to return to normal was 8 days for the breastfed group and 7 days for the control group. The phe assay results were normal in 87% of tests for the breastfed group and in 74.4% for the control group. The majority of children in both groups exhibited a z score > -2 on anthropometric examination. Conclusions:Continuation of breastfeeding, during the treatment, proved adequate for metabolic control and growth in children with phenylketonuria.J Pediatr (Rio J). 2007;83(5):447-452: Breastfeeding, phenylketonuria, phenylalanine.

Objective: This study aimed to identify markers of metabolic syndrome (MS) in patients with phenylketonuria (PKU). Methods: This was a cross-sectional study consisting of 58 PKU patients (ages of 4-15 years): 29 patients with excess weight, and 29 with normal weight. The biochemical variables assessed were phenylalanine (phe), total cholesterol, HDL-c, triglycerides, glucose, and basal insulin. The patients had Homeostasis Model Assessment (HOMA) and waist circumference assessed. Results: No inter-group difference was found for phe. Overweight patients had higher levels of triglycerides, basal insulin, and HOMA, but lower concentrations of HDL-cholesterol, when compared to the eutrophic patients. Total cholesterol/HDL-c was significantly higher in the overweight group. A positive correlation between basal insulin level and HOMA with waist circumference was found only in the overweight group. Conclusion: The results of this study suggest that patients with PKU and excess weight are potentially vulnerable to the development of metabolic syndrome. Therefore, it is necessary to conduct clinical and laboratory monitoring, aiming to prevent metabolic changes, as well as excessive weight gain and its consequences, particularly cardiovascular risk.

The prevalence of BH 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.

The results of this study suggest that patients with PKU and excess weight are potentially vulnerable to the development of metabolic syndrome. Therefore, it is necessary to conduct clinical and laboratory monitoring, aiming to prevent metabolic changes, as well as excessive weight gain and its consequences, particularly cardiovascular risk.

Objective: To evaluate selenium dietary intake and nutritional status of patients with phenylketonuria. Methods:The study prospectively evaluated 54 children with phenylketonuria, from 4 to10 years old. The study was performed before and after the use of a selenium-supplemented amino acid mixture. The second phase of the study was performed after, at least, 90 days of use of the supplementation. Selenium nutritional status was assessed through the analysis of biochemical parameters: serum free thyroxin and selenium and glutathione peroxidase in erythrocytes. Selenium dietary intake was evaluated by the administration of the Food Frequency Questionnaire.Results: Mean age of the children was of 7.0±1.8 years, and 35.2% were female. Mean time of supplementation of selenium, on special formula, was 122.2±25.1 days. The selenium-supplemented amino acid mixture represented 72.9% of the daily supply of the mineral. Upon supplementation, mean concentrations of serum selenium and glutathione peroxidase in erythrocytes increased significantly (p < 0.05). The average daily intake of selenium increased significantly (p < 0.001), reaching the levels recommended by the Dietary Reference Intakes. The concentration of free thyroxin, in serum, presented significant reduction (p < 0.001) in all patients during the second phase of the study, and returned to normal limits in those who had changed levels. Conclusion:Selenium supplementation through protein replacement is effective to improve and adapt the nutritional status of selenium in patients with phenylketonuria.J Pediatr (Rio J). 2012;88(5):396-400: Phenylketonuria, selenium, glutathione peroxidase, thyroid hormones. ResumoObjetivo: Avaliar a ingestão alimentar e o estado nutricional em selênio em pacientes com fenilcetonúria. Métodos:Foram avaliados prospectivamente 54 crianças com fenilcetonúria, entre 4 e 10 anos de idade. O estudo foi realizado antes e após o uso de mistura de aminoácidos complementada com selênio. A segunda fase do estudo foi realizada com, no mínimo, 90 dias de utilização da mistura complementada. O estado nutricional em selênio foi avaliado por meio da análise de parâmetros bioquímicos: dosagens séricas de selênio e tiroxina livre e dosagem de glutationa peroxidase no eritrócito. A ingestão alimentar de selênio foi avaliada por aplicação de Questionário de Frequência Alimentar Quantitativo.Resultados: A idade média das crianças foi de 7,0±1,8 anos, e 35,2% eram do sexo feminino. O tempo médio de complementação de selênio, em fórmula especial, foi de 122,2±25,1 dias. A mistura de aminoácidos complementada com o mineral representou 72,9% da oferta diária de selênio. Após a complementação, as concentrações médias de selênio sérico e de glutationa peroxidase no eritrócito apresentaram aumento significativo (p < 0,05). A ingestão média diária de selênio aumentou significativamente (p < 0,001), alcançando o recomendado pela Ingestão Dietética de Referência. A concentração de tiroxina livre, no soro, apresentou redução significativa (p < 0,001) em tod...

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