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2.
J. pediatr. (Rio J.) ; 98(1): 104-110, Jan.-Feb. 2022. tab, graf
Article in English | LILACS | ID: biblio-1360562

ABSTRACT

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.


Subject(s)
Humans , Child , Adolescent , Adult , Young Adult , Phenylketonurias/complications , Phenylketonurias/epidemiology , Pediatric Obesity/complications , Pediatric Obesity/epidemiology , Body Mass Index , Prevalence , Cross-Sectional Studies , Causality , Overweight/complications , Overweight/diagnosis , Overweight/epidemiology
3.
Rev. homeopatia (São Paulo) ; 83(1): 19-29, 2022.
Article in Portuguese | LILACS, HomeoIndex | ID: biblio-1359197

ABSTRACT

Agradecemos a gentileza do convite para proferir esta conferência no interessante momento em que, por iniciativa da comissão organizadora deste XXII Congresso Brasileiro de Homeopatia, são convidados observadores e palestrantes da área não homeopática com a intencionalidade de nos questionar e quebrar a assim chamada auto referência. Trazemos aqui algumas considerações sobre a Clínica da Similitude, que esperamos possam contribuir para a compreensão do nosso modelo e levantar questionamentos sobre a nossa prática. Foi-nos ensinado que a ciência começa na filosofia clássica como um projeto de conhecimento do homem, valendo-se inicialmente apenas da razão, incorporando posteriormente o trabalho experimental para a sua evolução e aperfeiçoamento. Nesse contexto observamos que, como consequência do resgate acidental de Hahnemann, a Homeopatia nasce bem dentro da proposta de experimentação buscando, a seguir, valer-se da razão para tentar compreender o conhecimento que ali se mostrava. (AU)


Subject(s)
Male , Female , Child , Adult , Middle Aged , Phenylketonurias/therapy , Valerian , Homeopathic Clinics , Ignatia amara/therapeutic use , Law of Similars , Natrium Muriaticum/therapeutic use , Bryonia , Causticum/therapeutic use , Mercurius Solubilis/therapeutic use
4.
Diaeta (B. Aires) ; 40(177)2022.
Article in Spanish | LILACS, BINACIS, UNISALUD | ID: biblio-1396664

ABSTRACT

Introducción: la fenilcetonuria (PKU) es el error congénito del metabolismo de las proteínas más frecuente. El tratamiento dietético consiste en un plan de alimentación con una ingesta de proteínas naturales restringida, un sustituto proteico libre o de bajo contenido en fenilalanina (Phe) y el aporte de alimentos muy bajos en proteínas. El objetivo principal de este trabajo fue investigar si es posible aumentar la ingesta de proteína natural (PN) que se indica a los pacientes con PKU manteniendo los dosajes de Phe en sangre en rangos de seguridad. Materiales y método: se buscaron en 6 bases de datos electrónicas artículos publicados. Se identificaron un total de 154 artículos de Pub Med por intervalo de años desde 1999 a 2020. Se eligieron 15 artículos que se adaptaron a los criterios de inclusión y exclusión y respondían al objeto de estudio de esta revisión bibliográfica. Resultados: hay varios factores que pueden influenciar la estimación de la tolerancia de Phe como la severidad del fenotipo del paciente, la edad, el rango de seguridad de Phe en sangre, la prescripción de Phe y la adherencia al sustituto proteico. Si los niveles de Phe en sangre se mantienen en forma constante dentro del rango adecuado y por un período determinado, se debería considerar un incremento de la ingesta de Phe. El aumento de la ingesta de PN deberá ser realizado de manera controlada, individual y evaluando en forma constante el impacto en los dosajes de Phe en sangre. Conclusión: optimizar la ingesta de PN ofrece una mejora en la calidad de vida de pacientes con PKU, facilita la capacidad del paciente para socializar y contribuye a una mejor adherencia a la dieta(AU).


Introduction: phenylketonuria (PKU) is the most frequent inborn error of protein metabolism. The dietary treatment consists of a diet with a restricted natural protein intake, a free or low phenylalanine (Phe) protein substitute, and the intake of low protein food. The main objective of this work is to analyze if it is possible to increase the natural protein (NP) intake prescribed to PKU patients while maintaining blood Phe dosages within safe range. Materials and method: studies published were searched in 6 electronic data- basis. A total of 154 Pub Med articles were identified by range of years from 1999 to 2020. Fifteen articles which met the inclusion and exclusion criteria and responded to the objective of this bibliographic review were chosen. Results: several factors may influence Phe tolerance, such as severity of the patient´s phenotype, age, blood Phe safe range, Phe prescription and adherence to protein substitute. If Phe blood levels remain constantly within safe range and for a certain period, an increase of Phe intake should be considered. Increase of NP intake must be carried out in a controlled manner, individually and constantly evaluating blood Phe levels. Conclusion: optimizing NP intake offers the PKU patient an improvement in quality of life, facilitates the patient´s ability to socialize and contributes to a better adherence to the diet(AU).


Subject(s)
Phenylketonurias , Phenylketonurias/diet therapy , Proteins , Eating , Metabolism
5.
Rev. Paul. Pediatr. (Ed. Port., Online) ; 39: e2020095, 2021. tab, graf
Article in English, Portuguese | LILACS | ID: biblio-1155476

ABSTRACT

ABSTRACT Objective: To characterize metabolic control and verify whether it has any relation with socioeconomic, demographic, and body composition variables in children and adolescents with phenylketonuria (PKU) diagnosed in the neonatal period. Methods: This cohort study collected retrospective data of 53 phenylketonuric children and adolescents. Data on family income, housing, and mother's age and schooling level were collected, and anthropometric measures of body composition and distribution were taken. All dosages of phenylalanine (Phe) from the last five years (2015-2019) were evaluated and classified regarding their adequacy (cutoffs: 0-12 years: 2-6 mg/dL; 12-19 years: 2-10 mg/dL). Adequate metabolic control was considered if ≥7%) of the dosages were within desired ranges. Results: The mean (±standard deviation) age in the last year was 10.1±4.6 years. Most of them were under 12 years old (33/53; 62.3%) and had the classic form of the disease (39/53; 73.6%). Better metabolic control was observed among adolescents (68.4 versus 51.4%; p=0.019). Overweight was found in 9/53 (17%) and higher serum Phe levels (p<0.001) were found in this group of patients. Metabolic control with 70% or more Phe level adequacy decreased along with the arm muscle area (AMA) (ptendency=0.042), being 70.0% among those with low reserve (low AMA), and 18.5% among those with excessive reserve (high AMA). Conclusions: Adequate metabolic control was observed in most patients. The findings suggest that, in this sample, the levels of phenylalanine may be related to changes in body composition.


RESUMO Objetivo: Caracterizar o controle metabólico e verificar se existe relação entre ele, variáveis socioeconômicas, demográficas e composição corporal de crianças e adolescentes com fenilcetonúria (FNC) diagnosticada no período neonatal. Métodos: Coorte com coleta retrospectiva de dados de 53 crianças e adolescentes fenilcetonúricos. Foram coletados dados de renda familiar, moradia, idade e escolaridade materna e realizaram-se medidas antropométricas de composição e distribuição corporal. Todas as dosagens de fenilalanina (Fal) dos últimos cinco anos (2015-2019) foram avaliadas e classificadas quanto à adequação (cortes: 0-12 anos: 2-6 mg/dL; 12-19 anos: 2-10 mg/dL). A proporção de dosagens adequadas ≥70% foi considerada como controle metabólico adequado. Resultados: A média (±desvio padrão) de idade, no último ano, foi de 10,1±4,6 anos. A maioria tinha menos de 12 anos (33/53; 62,3%) e apresentava a forma clássica da doença (39/53; 73,6%). Observou-se melhor controle metabólico entre os adolescentes (68,4 vs. 51,4%; p=0,019). Excesso de peso foi encontrado em 9/53 (17%) e maiores níveis séricos de Fal foram descritos nesse grupo (p<0,001). O percentual de controle metabólico com 70% ou mais de adequação dos níveis de Fal foi decrescente de acordo com a área muscular do braço (AMB; ptendência=0,042), sendo de 70% entre os de baixa reserva (AMB reduzida) e de 18,5% entre os com excesso (AMB elevada). Conclusões: Observou-se controle metabólico adequado na maioria dos avaliados e os achados sugerem que, nesta amostra, os níveis de fenilalanina podem estar relacionados com alterações da composição corporal.


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Phenylalanine/blood , Phenylketonurias/diagnosis , Phenylketonurias/metabolism , Body Composition/physiology , Metabolism, Inborn Errors/diagnosis , Phenylketonurias/epidemiology , Socioeconomic Factors , Case-Control Studies , Anthropometry/methods , Demography , Nutritional Status , Retrospective Studies , Cohort Studies , Overweight/epidemiology , Metabolism, Inborn Errors/blood , Metabolism, Inborn Errors/epidemiology
7.
Belo Horizonte; s.n; 2020. 111 p. ilus, tab.
Thesis in Portuguese | LILACS, ColecionaSUS | ID: biblio-1397300

ABSTRACT

Introdução: A fenilcetonúria (PKU) é um erro inato do metabolismo, devido à perda ou diminuição da atividade da enzima fenilalanina hidroxilase. A dieta, com restrição de proteínas naturais e uso de fórmula de aminoácidos isenta em fenilalanina tem papel chave em seu tratamento. As peculiaridades da dieta têm levado à hipótese de predisposição ao sobrepeso/obesidade que, por outro lado é suspeito de predispor à doença hepática gordurosa não alcoólica (DHGNA). Teriam adolescentes com PKU maior predisposição ao desenvolvimento de sobrepeso/obesidade e à DHGNA? Objetivo: Avaliar sobrepeso/obesidade e DHGNA em adolescentes com PKU em tratamento dietético exclusivo. Métodos: Estudo transversal com 101 adolescentes com PKU entre 10 anos e 20 anos incompletos entre 2017-2018. Foram realizadas avaliações antropométricas, bioquímicas, determinação do consumo alimentar e ultrassom abdominal, com classificação do índice hepatorenal. Os pacientes foram divididos em dois grupos, de acordo com seu estado nutricional: um com os indivíduos com sobrepeso/obesidade, outro com eutrofia/baixo IMC. Foi constituído subgrupo com adolescentes de 13-17 anos para comparação com prevalência do sobrepeso/obesidade em escolares sadios, da mesma idade. Resultados: A prevalência de sobrepeso/obesidade foi de 27,7% e não houve predominância de sexos. A análise multivariada indicou concentrações sanguíneas elevadas de fenilalanina, de LDL-colesterol e elevação do índice HOMA como fatores preditores e aumento da idade como fator protetor do sobrepeso/obesidade. A comparação da prevalência de sobrepeso/obesidade entre os 46 pacientes entre 13-17 anos com escolares da mesma idade não rejeitou a hipótese de igualdade. A avaliação do índice hepatorenal detectou presença de DHGNA em 26 (25,7%) adolescentes, sem distinção entre sexos ou associação com sobrepeso/obesidade, sugerindo que a PKU e/ou a dieta podem contribuir para a DHGNA. O modelo final da análise multivariada, apresentou sensibilidade de 26,1% e especificidade de 94,7%, indicando a necessidade de estudar outras variáveis. A especificidade do modelo final sugeriu uma possibilidade menor de DHGNA naqueles com idade maior, níveis de fosfatase alcalina normal ou elevada, menor consumo de carboidratos e lipídios e consumo adequado de proteínas. Conclusão: A prevalência de sobrepeso/obesidade dos adolescentes com PKU foi semelhante à encontrada entre os adolescentes sem a doença. Concentrações elevadas de Phe, e LDL colesterol e índice HOMA acima da referência foram fatores preditores da mesma e idade mais elevada fator protetor. A PKU e/ou a dieta utilizada em seu tratamento podem representar risco de DHGNA, independentemente do sexo e do estado nutricional. A especificidade do modelo final sugeriu a possibilidade de DHGNA menor naqueles com idade maior, níveis de fosfatase alcalina normal/elevada, menor consumo de carboidratos e lipídios e consumo adequado de proteínas.


Subject(s)
Phenylketonurias , Body Mass Index , Non-alcoholic Fatty Liver Disease , Adolescent , Academic Dissertation , Diet
8.
Rev. Paul. Pediatr. (Ed. Port., Online) ; 38: e2018351, 2020. tab, graf
Article in English | LILACS | ID: biblio-1092150

ABSTRACT

ABSTRACT Objective: To identify phenylalanine hydroxylase (PAH) mutations in patients with phenylketonuria (PKU) from the Newborn Screening Service in Mato Grosso, Midwest Brazil. Methods: This is a cross-sectional descriptive study. The sample consisted of 19 PKU patients diagnosed by newborn screening. Molecular analysis: DNA extraction using the "salting-out" method. Detection of IVS10nt-11G>A, V388M, R261Q, R261X, R252W, and R408W mutations by the restriction fragment length polymorphism (RFLP) technique. Results: Two mutant alleles were identified in four patients (21.1%), one allele in five patients (26.2%), and none in the remaining ten patients (52.6%). A total of 13/38 alleles were detected, corresponding to 34.2% of the PAH alleles present. The most prevalent variant was V388M (13.2% of the alleles), followed by R261Q (10.1%) and IVS10nt-11G>A (7.9%). Three variants (R261X, R252W, and R408W) were not found. The most frequent mutation types were: missense mutation in eight alleles (18.4%) and splicing in four alleles (10.5%). The model proposed by Guldberg to determine a genotype/phenotype correlation was applied to four classical PKU patients with two identified mutations. In three of them, the predicted moderate/moderate or moderate PKU phenotype did not coincide with the actual diagnosis. The prediction coincided with the diagnosis of one classic PKU patient. The estimated incidence of PKU for Mato Grosso, Brazil, was 1:33,342 live births from 2003 to 2015. Conclusion: The only mutations found in the analyzed samples were the IVS10nt-11G>A, V388M, and R261Q. The genotype/phenotype correlation only occurred in four (5.3%) patients.


RESUMO Objetivo: Identificar mutações da fenilalanina hidroxilase (PAH) em pacientes com PKU (fenilcetonúria) do Serviço de Triagem Neonatal em Mato Grosso. Métodos: Estudo de corte transversal. Amostra composta de 19 pacientes com PKU através do exame de triagem neonatal biológica. Análise molecular: a) extração de DNA pela metodologia "salting out". B) detecção de mutações IVS10nt-11G>A, V388M, R261Q, R261X, R252W e R408W pela técnica de polimorfismo de comprimento de fragmento de restrição (RFLP). Resultados: Dois alelos foram identificados em quatro pacientes (21,1%), um alelo em cinco pacientes (26,2%) e nenhum nos dez pacientes restantes (52,6%). Um total de 13/38 alelos foram identificados, correspondendo a 34,2% dos alelos PAH presentes. A variante mais prevalente foi a V388M (13,2% dos alelos), seguida de R261Q (10,1%) e IVS10nt-11G>A (7,9%). Três variantes (R261X, R252W e R408W) não foram encontradas. Os tipos de mutações mais frequentes foram: troca de sentido em oito alelos (18,4%) e emenda em quatro alelos (10,5%). O modelo proposto por Guldberg para determinar uma correlação genótipo/fenótipo foi aplicado para quatro pacientes clássicos de PKU, com duas mutações identificadas. Em três, o fenótipo previsto de PKU moderada/moderada ou moderada não coincidiu com o diagnóstico real. A predição coincidiu com o diagnóstico de um paciente PKU clássico. A incidência de PKU estimada para Mato Grosso, Brasil foi de 1:33.342 nascidos vivos para o período de 2003 a 2015. Conclusões: Foram encontradas apenas as mutações IVS10nt-11G>A, V388M, R261Q nas amostras analisadas. A correlação genótipo/fenótipo ocorreu em quatro (5,3%) pacientes.


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Phenylalanine Hydroxylase/genetics , Phenylketonurias/genetics , Alternative Splicing , Mutation, Missense , Phenotype , Polymorphism, Restriction Fragment Length , Brazil , DNA Mutational Analysis/methods , Cross-Sectional Studies , Neonatal Screening , Alleles , Genotype
9.
Rev. Paul. Pediatr. (Ed. Port., Online) ; 38: e2018201, 2020. tab, graf
Article in English | LILACS | ID: biblio-1092136

ABSTRACT

ABSTRACT Objective: To verify the occurrence of overweight in children and adolescents with phenylketonuria and to identify possible causal factors. Data sources: A systematic review was performed in the SciELO, PubMed and VHL databases using the descriptors "Phenylketonurias", "Overweight", "Child" and "Adolescent". Original articles conducted with children and adolescents, published between 2008 and 2018 in Portuguese, English or Spanish languages were included. Data synthesis: A total of 16 articles were identified and, after screening procedures, 6 studies were selected for the review. Overweight in children and adolescents with phenylketonuria was a frequent occurence in the studies included in this review, ranging from 7.8 to 32.6%. The female sex was the most affected by the nutritional disorder. Furthermore, a high caloric intake combined with a lack of stimuli to practice physical activities were main factors associated with the excessive weight in the population of interest. Conclusions: Excess weight can be considered a common outcome in children and adolescents with phenylketonuria. It is mainly caused by inadequate food consumption and sedentary lifestyle. The importance of early identification of nutritional disturbances in children and adolescents with phenylketonuria should be emphasized, in order to prevent associated chronic diseases and to promote health by encouraging continued healthy eating habits and the regular practice of physical exercises.


RESUMO Objetivo: Verificar a ocorrência de excesso de peso em crianças e adolescentes com fenilcetonúria e identificar possíveis fatores causais. Fontes de dados: Revisão sistemática realizada nas bases de dados Scientific Eletronic Library Online (SciELO), Publisher Medline (PubMed) e Biblioteca Virtual em Saúde (BVS) com os descritores "Phenylketonurias", "Overweight", "Child" e "Adolescent". Foram incluídos artigos originais sobre crianças e adolescentes, publicados entre 2008 e 2018 nos idiomas português, inglês ou espanhol. Síntese dos dados: Foram identificados 16 artigos e, após aplicação dos procedimentos de seleção, 6 estudos foram selecionados para compor a revisão. O excesso de peso em crianças e adolescentes com fenilcetonúria foi evento frequente nos estudos incluídos na presente revisão, variando de 7,8 a 32,6%. Aponta-se o sexo feminino como o grupo mais acometido pelo distúrbio nutricional. O principal fator associado ao excesso de peso na população de interesse na população de interesse foi o consumo calórico elevado aliado à falta de estímulos para a prática de atividades físicas. Conclusões: O excesso de peso pode ser considerado um desfecho comum em crianças e adolescentes com fenilcetonúria, sendo ocasionado principalmente pelo consumo alimentar inadequado e pelo sedentarismo. Salienta-se a importância da identificação precoce de agravos nutricionais em crianças e adolescentes fenilcetonúricos, a fim de prevenir doenças crônicas associadas e promover a saúde, com incentivo à manutenção de hábitos alimentares saudáveis e à prática regular de exercícios físicos.


Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Young Adult , Phenylketonurias/complications , Overweight/epidemiology , Pediatric Obesity/epidemiology , Phenylalanine Hydroxylase , Energy Intake , Body Mass Index , Sex Factors , Prevalence , Cross-Sectional Studies , Retrospective Studies , Age Factors , Overweight/etiology , Feeding Behavior , Sedentary Behavior , Pediatric Obesity/etiology
10.
Medicina (B.Aires) ; 79(supl.3): 2-5, set. 2019. tab
Article in Spanish | LILACS | ID: biblio-1040540

ABSTRACT

La fenilcetonuria, también conocida como PKU, es el error congénito más frecuente del metabolismo de los aminoácidos. La forma grave o PKU clásica no tratada, causa una discapacidad intelectual, aunque los programas de detección en el período neonatal, el diagnóstico y el tratamiento evitan la aparición de los síntomas. A pesar de un diagnóstico y tratamiento temprano hemos observado cierta neurotoxicidad en los pacientes con PKU tratados. Analizamos los demás factores implicados, aparte de la toxicidad por las elevadas concentraciones cerebrales de fenilalanina (Phe), se revisan los defectos de síntesis de neurotransmisores, las alteración de la mielinización cerebral, el efecto de la elevación de Phe en los procesos de transporte y distribución de los aminoácidos neutros con una síntesis anómala de proteínas cerebrales, la deficiencia plasmática y cerebral de tirosina, la neurotoxicidad de los metabolitos de Phe, el defecto de la biosíntesis del colesterol o el aumento del estrés oxidativo. Las alteraciones de la sustancia blanca en los pacientes con PKU tienen un papel importante en las manifestaciones neurológicas. El tratamiento de la PKU es para toda la vida y se basa en la reducción del aporte de alimentos que contienen Phe combinado con la administración de una fórmula especial, o en el tratamiento con tetrahidrobiopterina (BH4). Se analizan nuevas opciones terapéuticas.


Phenylketonuria, also known as PKU, is the most frequent congenital inborn error of metabolism. The severe form or classic PKU untreated causes intellectual disability, although with the early detection programs in the neonatal period, diagnosis and treatment prevent the appearance of the symptoms. Despite early diagnosis and treatment we have observed some neurotoxicity in treated PKU patients. We analyzed the factors involved apart from the toxicity due to the high cerebral concentrations of phenylalanine (Phe), the defects of synthesis of neurotransmitters, the alteration of cerebral myelination, the effect of the elevation of Phe in the processes of transport and distribution of neutral amino acids with an abnormal synthesis of brain proteins, plasma and cerebral tyrosine deficiency, the neurotoxicity of Phe metabolites, the defect of cholesterol biosynthesis or the increase of oxidative stress. White matter alterations in early treated PKU patients have an important role in neurological manifestations. The treatment of PKU is for life and is based on the reduction of foods containing Phe combined with the administration of a special formula or tetrahydrobiopterin (BH4) treatment. New therapeutic options will be analyzed.


Subject(s)
Humans , Phenylalanine/adverse effects , Phenylketonurias/diagnosis , Phenylketonurias/therapy , Tyrosine/metabolism , Neurons/pathology , Phenylketonurias/physiopathology , Biopterin/analogs & derivatives , Early Diagnosis , Diet Therapy
11.
Arch. latinoam. nutr ; 69(1): 25-33, mar. 2019. tab, graf
Article in Spanish | LILACS, LIVECS | ID: biblio-1022450

ABSTRACT

La fenilcetonuria (PKU) es causada por una actividad deficiente de la enzima fenilalanina hidroxilasa. En los pacientes con esta deficiencia la fenilalanina (Phe) no puede ser convertida en tirosina, aumentando sus niveles en sangre y de otros metabolitos neurotóxicos, provocando un retraso mental irreversible. El tratamiento fundamentalmente se basa en una dieta controlada de Phe. Sin embargo, los alimentos libres o bajos en Phe son escasos. El objetivo de esta investigación es obtener hidrolizados proteicos con bajo contenido de Phe a partir del suero dulce de leche en polvo y harina de E. edulis Triana. El aislado proteico (96,01% proteína cruda) se obtuvo por solubilización y precipitación de las proteínas de la harina, mientras que las proteínas del suero (15,69% proteína cruda) fueron tratadas en su matriz original. Las proteínas del suero y el asilado fueron hidrolizadas enzimáticamente con pepsina y proteasa de Streptomyces griseus. La concentración de Phe se determinó por fluorometría y por HPLC, de lo cual la Phe de las proteínas del suero es liberada una hora antes que las del chachafruto, debido a que las proteínas del suero en parte fueron hidrolizadas en la elaboración del queso. Además, los resultados de la utilización del carbón activados como captor de Phe indican la reducción total del contenido de este aminoácido en los hidrolizados y la reducción de la concentración de otros aminoácidos(AU)


henylketonuria (PKU) is caused by a low activity of the enzyme phenylalanine hydroxylase. In patients with this deficiency, phenylalanine (Phe) cannot be converted to tyrosine, increasing blood levels and other neurotoxic metabolites, causing irreversible mental retardation. The treatment is fundamentally based on a controlled diet of Phe. However, free or low-Phe foods are scarce. The objective of this research is to obtain protein hydrolysates with low Phe content from sweet milk powder and E. edulis Triana flour. The protein isolate (96.01% crude protein) was obtained by solubilization and precipitation of the flour proteins, while the whey proteins (15.69% crude protein) were treated in their original matrix. Serum and asylated proteins were enzymatically hydrolyzed with pepsin and Streptomyces griseus protease. The concentration of Phe was determined by fluorometry and by HPLC, from which the Phe of whey proteins is released one hour earlier than those of chachafruto, due to the fact that the whey proteins were partially hydrolyzed in the elaboration of the cheese. In addition, the results of the use of charcoal activated as Phe captor indicate the total reduction of the content of this amino acid in the hydrolysates and the reduction of the concentration of other amino acids(AU)


Subject(s)
Humans , Male , Female , Phenylketonurias/pathology , Protein Hydrolysates/analysis , Whey Proteins/administration & dosage , Whey Proteins/biosynthesis , Nutritional and Metabolic Diseases , Nutrition Disorders
12.
J. Health Biol. Sci. (Online) ; 7(1): 97-100, jan.-mar. 2019.
Article in Portuguese | LILACS | ID: biblio-1005506

ABSTRACT

Introdução: a fenilcetonúria (PKU) é uma doença do metabolismo da fanilalanina cujo tratamento se baseia na introdução precoce de uma fórmula com restrição de fenilalanina. Relato do caso: uma menina, com diagnóstico de PKU a partir da triagem neonatal, com 82 dias de vida, recebeu tratamento dietético com fórmula com restrição de fenilalanina associada à fórmula láctea e desenvolveu alergia à proteína do leite de vaca (APLV) com sintomas cutâneos e gastrointestinais. Conclusão: o manejo dietético da PKU pode precipitar a ocorrência da APLV.


Introduction: Phenylketonuria (PKU) is a disease of the metabolism of phanylalanine whose treatment is based on the early introduction of a phenylalanine-restricted formula. Case report: A girl with 82 days of life with PKU diagnosis from neonatal screening received dietary treatment with a phenylalanine-restricted formula associated with the milk formula. She developed allergy to cow's milk protein (APLV) with cutaneous symptoms and gastrointestinal disorders. Conclusion: Dietary management of PKU may precipitate the occurrence of APLV.


Subject(s)
Phenylketonurias , Milk Hypersensitivity , Diet Therapy , Infant Formula
13.
Article in Chinese | WPRIM | ID: wpr-776747

ABSTRACT

OBJECTIVE@#To delineate the variants spectrum of phenytalanine hydroxylase (PAH) gene among 78 unrelated patients with phenylketonuria (PKU) from Jiangxi province.@*METHODS@#The 13 exons and flanking intronic regions of the PAH gene were subjected to PCR amplification and sequencing.@*RESULTS@#A total of 143 variants were detected among the 156 alleles, which included 54 types of variants, which yielded a detection rate of 91.7%. Common variants have included R243Q (26/143, 18.2%), R408Q (10/143, 7.0%), EX6-96A to G(8/143, 5.6%), IVS4-1G to A(7/143, 4.9%), R241C(7/143, 4.9%) and V399V(7/143, 4.9%). In addition, 6 novel variants were detected, which included IVS4-3T to G, Q172H, C284Y, V291L, V329del, and L430R. The variants consisted of missense, splicing, nonsense and deletion variants, which have mainly located in exons 7 (45, 31.5%), 12(17, 11.9%), 11(16, 11.2%) and 6(14, 9.8%).@*CONCLUSION@#Variants of the PAH gene identified in Jiangxi province mainly involve exons 7, 12, 11 and 6, with the most common variants being R243Q and R408Q. Six novel variants were identified.


Subject(s)
China , Exons , Humans , Introns , Mutation , Phenylalanine Hydroxylase , Genetics , Phenylketonurias , Genetics
14.
Article in Chinese | WPRIM | ID: wpr-776746

ABSTRACT

OBJECTIVE@#To explore the spectrum of genetic variants among patients with hyperphenylalaninemia (HPA) from Quanzhou area of Fujian province.@*METHODS@#For 63 children affected with HPA, next generation sequencing was used to identify potential variants in PAH, PTS, PCBD1, QDPR, SPR and GCH1 genes.@*RESULTS@#Fifty two variants underlying phenylalanine hydroxylase deficiency (PAHD) and 13 variants underlying 6-pyruvoyl tetrahydropterin synthase deficiency (PTPSD) were identified. Two patients carried variants of both PAH and PTS genes. The most common variants of the PAH gene were R53H (21.69%), R241C(18.07%), R243Q(12.05%) and EX6-96A to G (7.23%), which were mainly located in exons 7 (32.53%), 2 (21.69%), 6 (9.64%) and 12 (9.64%). The L227M variant of the PAH gene was unreported previously. N52S (35.00%), P87S (25.00%), IVS1-291A to G (10.00%) and T67M (10.00%) variants were the most common variants for the PTS gene and were mainly located in exons 2 (35.00%) and 5 (35.00%).@*CONCLUSION@#The variant spectrum underlying HPA in Quanzhou area showed a geographical specificity. A novel variant of the PAH gene (L227M) has been detected.


Subject(s)
Child , China , Exons , High-Throughput Nucleotide Sequencing , Humans , Mutation , Phenylalanine Hydroxylase , Genetics , Phenylketonurias , Genetics , Phosphorus-Oxygen Lyases , Genetics
15.
Clin. biomed. res ; 39(1): 24-31, 2019.
Article in Portuguese | LILACS | ID: biblio-1026077

ABSTRACT

Introdução: Redução da densidade mineral óssea (DMO) está associada à Fenilcetonúria (PKU), mas a causa desta associação não é completamente entendida. O objetivo desse estudo foi avaliar a ingestão de nutrientes relacionados ao metabolismo ósseo (cálcio, fósforo, magnésio, potássio), e sua associação com a DMO em pacientes com PKU. Métodos: Estudo transversal, observacional. Foram incluídos 15 pacientes (PKU Clássica=8; Leve=7; mediana de idade=16 anos, IQ=15-20), todos em tratamento com dieta restrita em fenilalanina (Phe) e 13 em uso de fórmula metabólica. Foi realizado recordatório alimentar de 24 horas de um dia e demais dados (histórico de fraturas, parâmetros antropométricos, DMO e níveis plasmáticos de Phe, Tyr, cálcio) foram obtidos por revisão de prontuário. Resultados: Nenhum paciente apresentou histórico de fraturas e seis realizavam suplementação de cálcio (alteração prévia da DMO=5; baixa ingestão=1). A mediana dos níveis de Phe foi 11,6 mg/dL (IQ=9,3-13,3). Em relação ao recordatório alimentar, dez indivíduos apresentaram inadequado consumo de carboidratos; 14, de lipídeos; 9, de cálcio; 11, de magnésio; 13, de fósforo; e todos de potássio. A mediana da DMO foi de 0,989 g/cm2 (IQ=0,903-1,069), sendo duas classificadas como reduzidas para idade, ambas de pacientes com PKU Leve que recebiam suplementação de cálcio. Não foi observada correlação entre níveis de Phe, DMO e demais variáveis analisadas. Conclusão: Redução da DMO não foi frequente na amostra, embora ingestão inadequada de cálcio assim o seja. Estudos adicionais são necessários para esclarecer o efeito da Phe e da ingestão dietética sobre o metabolismo ósseo na PKU. (AU)


Introduction: Reduced bone mineral density (BMD) is associated with phenylketonuria (PKU), but this association is not completely understood. This research aimed to evaluate intake of nutrients related to bone metabolism (calcium, phosphorus, magnesium, potassium) and its association with BMD in patients with PKU. Methods: In this cross-sectional, observational study, 15 patients with PKU (Classical=8, Mild=7; median age=16 years, IQ=15-20 years) were included, all of them on phenylalanine (Phe) restricted diet and 13 being supplemented with a metabolic formula. A 24-hour dietary recall was performed and remaining data (history of fractures, anthropometric parameters, BMD and plasma Phe, tyrosine and calcium levels) were obtained through medical chart review. Results: No patient had any fractures and six received calcium supplements, five due to previous change in BMD and one due to inadequate nutritional intake. Median Phe level was 11.6 mg/dL (IQ=9.3-13.3). In relation to dietary recall, all individuals had inadequate intake of some nutrient (carbohydrate=10; lipids=14; calcium=9; magnesium=11; phosphorus=13; potassium=15). The median BMD was 0.989 g/cm2 (IQ=0.903-1.069). Two cases were classified as low BMD for age, both in patients with mild PKU receiving calcium supplements. Conclusion: Reduced BMD was not common in this sample, although inadequate calcium intake was frequently reported. Additional studies are needed to clarify the effect of Phe and dietary intake on bone metabolism in patients with PKU.(AU)


Subject(s)
Humans , Male , Female , Adolescent , Adult , Phenylketonurias/complications , Phenylketonurias/diet therapy , Bone Density , Densitometry
16.
J. pediatr. (Rio J.) ; 94(2): 170-176, Mar.-Apr. 2018. tab
Article in English | LILACS | ID: biblio-894120

ABSTRACT

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.


Subject(s)
Humans , Male , Female , Infant, Newborn , Phenylketonurias/diagnosis , Phosphorus-Oxygen Lyases/deficiency , Phenylketonurias/complications , Phenylketonurias/epidemiology , Brazil/epidemiology , Prevalence , Cross-Sectional Studies , Retrospective Studies , Neonatal Screening
17.
Rev. ecuat. pediatr ; 19(1): 16-17, enero 2018.
Article in Spanish | LILACS | ID: biblio-996422

ABSTRACT

Introducción. La fenilcetonuria (FCU) es un error innato del metabolismo debido a deficiencia hereditaria de la enzima fenilalanina hidroxilasa causando acúmulo de fenilalanina (Phe) en varios tejidos del cuerpo humano, ocasionando retraso global del desarrollo. Existen grandes variaciones en la incidencia de FCU por grupo étnico, observándose que es más frecuente en caucásicos y en nativos amerindios, mientras que una menor incidencia se observa en afroamericanos, mestizos y asiáticos. En general, la incidencia de la FCU en caucásicos es de 1 en 10.000; mientras que en afroamericanos es de 1 en 200.000. Se ha observado que se presenta con mayor frecuencia en personas cuyos antepasados provienen del norte de Europa, en comparación con personas de origen afroamericano, judío o japonés. Caso clínico. Masculino prematuro muy prematuro de 29 semanas de edad gestacional, nace con apgar 7 ­ 8 que posteriormente presenta dificultad respiratoria que se incrementa por lo que fue necesario colocar en ventilación mecánica invasiva con parámetros altos que evolucionan a VAFO; posteriormente se intenta colocar SOG la cual no se logra colocar con facilidad. Paciente con mala evolución respiratoria, acidosis metabólica persistente, no tolera la alimentación a la leche materna, presenta distensión abdominal que lleva a suspender la vía oral por varias ocasiones. A la exploración física paciente presenta hipo actividad marcada posteriormente episodios convulsivos, pupilas normales, piel blanca, dermatitis del pañal; resto normal. Se toma nuevo tamiz haciéndose diagnóstico de FCU clásica, tratándose con formula libre de Phe. Paciente incrementa peso con la alimentación libre Phe, sin embargo, las múltiples complicaciones respiratorias sobre todo llevan a un deceso por proceso séptico asociado. Conclusión. La FCU puede ser diagnosticada tempranamente por tamiz neonatal, realizado de rutina en Ecuador sin embargo los resultados aun siendo tomados como tamizaje tienen un periodo de entrega e 30 días tiempo que puede obscurecer el diagnóstico y ayuda oportuna en ciertos casos. Cabe recalcar que en varias provincias de nuestro país aún no se realiza el tamizaje neonatal, por lo que es muy importante conocer la enfermedad para diagnosticarla previo a que existan complicaciones múltiples.


Introduction. Phenylketonuria (PKU) is an inborn error of metabolism due to hereditary deficiency of the enzyme phenylalanine hydroxylase causing accumulation of phenylalanine (Phe) in various tissues of the human body, causing global developmental delay. There are large variations in the incidence of FCU by ethnic group, being observed that it is more frequent in Caucasians and Native Amerindians, while a lower incidence is observed in African-Americans, mestizos and Asians. In general, the incidence of FCU in Caucasians is 1 in 10,000; while in African-Americans it is 1 in 200,000. It has been observed that it occurs more frequently in people whose ancestors come from northern Europe, compared to people of African-American, Jewish or Japanese origin. Clinical case. Very premature male of 29 weeks of gestational age, born with apgar 7 - 8 that later presents respiratory difficulty that increases so it was necessary to place in invasive mechanical ventilation with high parameters that evolve to HFOV; subsequently, an attempt is made to place SOG, which can not be easily placed. Patient with bad respiratory evolution, persistent metabolic acidosis, does not tolerate feeding to breast milk, presents abdominal distension that leads to suspend the oral route several times. On physical examination, the patient presented hypo activity, which was subsequently marked by convulsive episodes, normal pupils, white skin, diaper rash; rest normal. A new sieve is taken making a diagnosis of classic FCU, treating with Phe-free formula. Patient increases weight with free feeding Phe nevertheless the multiple respiratory complications mainly lead to a death by associated septic process. Conclusion. The FCU can be diagnosed early by neonatal screening, performed routinely in Ecuador, however, the results even being taken as a screening have a delivery period of 30 days that may obscure the diagnosis and timely help in certain cases. It should be noted that even in several provinces of our country, neonatal screening is still not done, so it is very important to know the disease to diagnose it before there are multiple complications.


Subject(s)
Humans , Infant, Newborn , Phenylketonurias , Congenital Abnormalities , Infant, Premature, Diseases
18.
Article in Korean | WPRIM | ID: wpr-717164

ABSTRACT

External quality assessment (EQA) trials of conventional newborn screening tests for phenylketonuria, galactosemia, congenital adrenal hyperplasia, maple syrup urine disease, homocystinuria, and congenital hypothyroidism, as well as extended newborn screening tests using tandem mass spectrometry, were performed twice in 2016 and 2017. A total of 44 specimens in the form of dried blood spots were distributed in each trial to 16 laboratories. The response rate of these laboratories was 100%. The mean, standard deviation, coefficient of variation, median, and cut-offs were evaluated for each analyte in the newborn screening tests. EQA trials for the analyses of methylmalonic acid, vanillylmandelic acid, catecholamines, metanephrines, organic acids, and amino acids were also performed. A well-designed EQA program and continuous education would improve the performance of metabolite testing.


Subject(s)
Adrenal Hyperplasia, Congenital , Amino Acids , Catecholamines , Congenital Hypothyroidism , Education , Galactosemias , Homocystinuria , Humans , Infant, Newborn , Korea , Maple Syrup Urine Disease , Mass Screening , Methylmalonic Acid , Phenylketonurias , Tandem Mass Spectrometry , Vanilmandelic Acid
19.
Article in Chinese | WPRIM | ID: wpr-775836

ABSTRACT

OBJECTIVE@#To explore the characteristics of PAH gene variants among 113 phenylketonuria patients from Henan Province.@*METHODS@#The 13 exons of the PAH gene were subjected to PCR amplification and direct sequencing. Large fragment deletion and duplication of the PAH gene were detected with a multiple ligation-dependent probe amplification (MLPA) assay.@*RESULTS@#In total 195 point variants and 3 large fragment deletions were detected among the 226 alleles, with the detection rates being 86.28% and 1.33%, respectively. Variants of p.Arg243Gln (18.14%), p.Arg111X (6.19%), p.Arg53His (5.31%), EX6-96A>G (5.31%), p.Tyr356X (4.87%) and p.Val399Val (4.42%) were relatively common. Most of the variants were located in exons 7, 11, 3 and 6. Missense variations were most common. Four novel variations were detected, which included c.1016C>A (p.Ser339Tyr), c.1000T>C (p.Cys334Arg), c.1110G>T (p.Glu370Asp), and IVS6+1G>T.@*CONCLUSION@#The PAH gene variations in Henan Province have featured extensive allelic heterogeneity and variety.


Subject(s)
China , Exons , Humans , Mutation, Missense , Phenylalanine Hydroxylase , Genetics , Phenylketonurias , Genetics , Point Mutation , Sequence Deletion
20.
Braz. j. med. biol. res ; 51(2): e6709, 2018. tab, graf
Article in English | LILACS | ID: biblio-889022

ABSTRACT

Early dietary treatment of phenylketonuria (PKU), an inborn error of phenylalanine (Phe) metabolism, results in normal cognitive development. Although health-related quality of life (HRQoL) of PKU patients has been reported as unaffected in high-income countries, there are scarce data concerning HRQoL and adherence to treatment of PKU children and adolescents from Brazil. The present study compared HRQoL scores in core dimensions of Brazilian early-treated PKU pediatric patients with those of a reference population, and explored possible relationships between adherence to treatment and HRQoL. Early-treated PKU pediatric patient HRQoL was evaluated by self- and parent-proxy reports of the Pediatric Quality of Life Inventory (PedsQL) core scales. Adherence to treatment was evaluated by median Phe levels and percentage of results within the therapeutic target range in two periods. Means for total and core scales scores of PedsQL self- and parent proxy-reports of PKU patients were significantly lower than their respective means for controls. Adequacy of median Phe concentrations and the mean percentage of values in the target range fell substantially from the first year of life to the last year of this study. There was no significant difference in mean total and core scale scores for self- and parent proxy-reports between patients with adequate and those with inadequate median Phe concentrations. The harmful consequences for intellectual capacity caused by poor adherence to dietary treatment could explain the observed decrease in all HRQoL scales, especially in school functioning. Healthcare system and financial difficulties may also have influenced negatively all HRQoL dimensions.


Subject(s)
Humans , Male , Female , Child , Adolescent , Phenylketonurias/diet therapy , Quality of Life/psychology , Parents , Phenylalanine/blood , Phenylketonurias/psychology , Time Factors , Brazil , Linear Models , Analysis of Variance , Age Factors , Treatment Outcome , Proxy , Intelligence Tests
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