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...

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: 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.

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.