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...
SummaryThis work was undertaken in order to ascertain the PKU mutational spectrum in Minas Gerais, Brazil, the relative frequency of the mutations in the State and the origin of these mutations by haplotype determination. Minas Gerais is a trihybrid population formed by miscegenation from Europeans, Africans and Amerindians. All 13 exons of the PAH gene from 78 PKU patients were analyzed, including splicing sites and the promoter region. We identified 30 different mutations and 98% of the PAH alleles were established. A new mutation (Q267X) was identified as well. The most common mutations found were V388M (21.2), R261Q (16.0%), IVS10-11G>A (15.3%), I65T (5.8%), IVS2+5G>C (5.8%), R252W (5.1%), IVS2+5G>A (4.5%), P281L (3.8%) and L348V (3.2%). These nine mutations correspond to 80% of the PKU alleles in the state. Haplotypes were determined to characterize the origin of the PAH alleles. The majority of the mutations found, with respective haplotypes, are frequent in the Iberian Peninsula. However, there were some mutations that are rare in Europe and four previously unreported mutation-haplotype associations. I65T and Q267X were found in association with haplotype 38 and may be African in origin or the result of miscegenation in the Brazilian population.
ABSTRACT. Phenylalanine hydroxylase deficiency is a trait inherited in an autosomal recessive pattern; the associated phenotype varies considerably. This variation is mainly due to the considerable allelic heterogeneity in the phenylalanine hydroxylase enzyme locus. We examined the genotype-phenotype correlation in 54 phenylketonuria (PKU) patients from Minas Gerais, Brazil. Two systems were used. The first was a phenotype prediction system based on arbitrary values (AV) attributed to each mutation and the second was a correlation analysis. An AV was assigned to each mutation: AV = 1 for classical PKU mutation; AV = 2 for moderate PKU mutation; AV = 4 for mild PKU mutation, and AV = 8 for non-PKU hyperphenylalaninemia mutation. The observed phenotype for AV analysis was the clinical diagnosis established by the overloading phenylalanine test. Among the 51 PKU patients that we analyzed based on this trait, in 51% the predicted phenotype did not match the observed phenotype; the highest degree of concordance was found in patients with null/null genotypes. The genotype was observed to be a good predictor of the clinical course of the patients and significant correlations were found between phenylalanine values at first interview and predicted residual activity, genotype and arbitrary value sum.
Objectives: To assess intelligence and its relationship with blood phenylalanine concentrations and socioeconomic status in patients with phenylketonuria after 6 to 12 years of treatment.Methods: Sixty-three children were classified according to phenylalanine levels and socioeconomic status and assessed using the Wechsler Intelligence Scale for Children. The Statistical Package for the Social Sciences (SPSS) was used to analyze phenylalanine; ANOVA was used to analyze intelligence quotients (IQ) and phenylalanine levels; and ordinal logistic regression was used to analyze the likelihood of higher IQ. Results:The overall IQ scores of 90.5% of the children were within a range from borderline intellectual deficiency to very high intelligence; for verbal IQ this proportion was 96.8% and 92.1% had performance IQ scores within this band. The categories from low to upper-medium socioeconomic status contained 98.4% of patients' families. The likelihood of having medium to high IQ was 4.29 times greater for children with good phenylalanine control and 4.03 greater for those from higher socioeconomic strata. Conclusions:Treatment prevented mental retardation in 90.5% of the patients. Control of phenylalanine levels and higher socioeconomic status were associated with higher IQ scores.J Pediatr (Rio J). 2012;88(4):353-6: Phenylketonuria, intelligence, cognition, phenylalanine. ResumoObjetivos: Avaliar inteligência e relação com concentrações sanguíneas de fenilalanina e condição socioeconômica de fenilcetonúricos entre 6 e 12 anos em tratamento.Métodos: Sessenta e três crianças, classificadas por níveis de fenilalanina e condição socioeconômica, realizaram Wechsler Intelligence Scale for Children. Utilizou-se o programa Statistical Package for the Social Sciences (SPSS) para analisar níveis de fenilalanina; testes ANOVA para avaliar quociente de inteligência (QI) e níveis de fenilalanina; e regressão logística ordinal para avaliar chances de melhor desempenho em QI.Resultados: Classificaram-se entre limítrofe e nível muito superior em QI total, 90,5% das crianças; em QI verbal, 96,8%; em QI de execução, 92,1%. Tiveram avaliação socioeconômica entre níveis baixo e médio superior, 98,4% das famílias. As chances de apresentar QI superior e médio foram 4,29 vezes maiores nas crianças com controle adequado e 4,03 vezes maiores nas de níveis socioeconômicos melhores. Conclusões Artigo originAl IntroduçãoA fenilcetonúria (PKU) é uma doença autossômica recessiva, que determina retardo mental quando não tratada. Seu tratamento consiste em dieta especial, associada a uma mistura de aminoácidos, isenta ou contendo baixas quantidades de fenilalanina (Phe) 1,2 . A triagem neonatal permite seu diagnóstico e tratamento precoces, evitando o retardo mental de intensidade variável, mas irreversível 2 . O Núcleo de Ações e Pesquisa em Apoio Diagnóstico
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