ABSTRACT
Objetivo: relatar caso de doença da urina do xarope de bordo (leucinose) e demonstrar como obterem-se bons resultados com o tratamento metabólico da doença. Descrição do caso: recém-nascida, desenvolveu no quinto dia de vida dificuldade de sucção, prostração e alternação de hipotonia e hipertonia axial. Foi admitida com 12 dias de vida em unidade de tratamento intensivo com crises de hipertonia, opistótono, movimentos de pedalar e apneia. Foi submetida à CPAP nasal e instituído tratamento de suporte, com triagem infecciosa negativa. A cromatografia sanguínea de aminoácidos revelou aumento pronunciado de leucina (5.986,4 nmol/mL), isoleucina (488,1 nmol/mL) e valina (755,9 mmol/mL), sendo diagnosticada leucinose e iniciado o seu tratamento metabólico. Evoluiu com melhora neurológica, ganho de peso e redução dos níveis de leucina. Recebeu alta em boas condições. Comentários: houve queda mais lenta nos níveis de leucina do que o relatado na literatura, o que pode ser explicado pelo tempo necessário para conseguir-se a dieta especial (MSUD 1) e pelo fato da mistura de aminoácidos usada na nutrição parenteral conter leucina. Poder-se-ia alcançar controle bioquímico mais rápido se houvesse disponibilidade diária da análise sérica quantitativa de aminoácidos e mais agilidade na liberação dos resultados.
Objective: Case report of the maple syrup urine disease (leucinosis) and show how to get good results with the disease metabolic treatment. Case description: newborn developed in the 5th day of life difficulty poor sucking, prostration and alternating axial hypotonia and hypertonia, was admitted with 12 days of life in the intensive treatment unit, with attacks of hypertonia, opisthotonus, paddling movements and apnea. She underwent nasal CPAP and supportive care instituted, with negative infectious screening. The blood amino acid chromatography showed a pronounced increase of leucine(5.986,4 nmol/mL), isoleucine (488,1 nmol/mL) and valine (755,9 mmol/mL), with leucinosis diagnosis and started the metabolic treatment. Evolved with neurological improvement, weight gain and decreased the levels of leucine. She was discharged in good condition. Comments: there was a slower fall in levels of leucine than that reported in the literature, which can be explained by the time needed to get the specialdiet (MSUD 1) and because the mixture of amino acids used in the parenteral nutrition contain leucine. The biochemical control could be achieved faster if there was daily availability of the quantitative analysis of serum amino acids and more speed in the release of results.
Subject(s)
Humans , Female , Infant, Newborn , Maple Syrup Urine Disease/diet therapy , LeucineABSTRACT
Las enfermedades metabólicas pueden presentarse con síntomas, signos y laboratorios inespecíficos, que si no se consideran entre los diagnósticos diferenciales pueden retrasar el diagnóstico de estos pacientes, lo que lleva a un alto grado de secuelas neurológicas o muerte en etapas tempranas. La enfermedad de Orina a Jarabe de Arce es una enfermedad metabólica de baja incidencia caracterizada por la acumulación de niveles tóxicos de valina, isoleucina y principalmente leucina. Se presenta un paciente sin antecedentes que a los 11 días de vida comienza con mala actitud alimentaria, letargia y fontanela tensa. Descartadas las causas infectológicas se realizó un screening para enfermedades metabólicas. Se diagnosticó Leucinosis (Enfermedad de orina con olor a Jarabe de Arce) y se inició el tratamiento con restricción de leucina, valina e isoleucina en la dieta. A los pocos días del tratamiento el paciente mostró evidencias de mejoría clínica y en los parámetros de laboratorio.
Clinical signs, symptoms and lab tests of neonatal metabolic diseases may be unspecific and a high grade of suspicion is necessary to include them among the differential diagnosis avoiding a significant delay in recognizing this condition and consequent risk of neurologic handicap or early dead. Maple syrup urine disease is a congenital metabolic disorder with a low rate of prevalence and characterized by a toxic accumulation of the amino acids valine, isoleucine and mainly leucine. In this report we describe the history of a patient apparently healthy that on the 11th day after birth initiates symptoms like poor feeding, lethargy and tense fontanel. Excluded sepsis a work up for metabolic disease was performed, being diagnosed a leucinosis (Maple syrup urine disease). A dietary treatment with leucine, valine and isoleucine restriction was immediately initiated and a few days after the patient showed significant clinical and lab improvement. A short description and discussion of this disease is presented.
Subject(s)
Humans , Male , Infant, Newborn , Amino Acids, Branched-Chain/metabolism , Amino Acids, Branched-Chain/blood , Maple Syrup Urine Disease/diagnosis , Maple Syrup Urine Disease/diet therapy , Argentina , Early Diagnosis , Metabolic Diseases/diagnosis , Isoleucine/metabolism , Isoleucine/blood , Leucine/metabolism , Leucine/blood , Neonatal Screening , Dietary Proteins/administration & dosage , Valine/metabolism , Valine/bloodABSTRACT
A leucinose, também conhecida como doença da urina em xarope de bordo, é uma doença metabólica inata decorrente de uma alteração genética que leva a um déficit enzimático na degradação dos aminoácidos de cadeia ramificada como a leucina, a isoleucina e a valina, caracterizada por um acúmulo tecidual destes aminoácidos e seus respectivos cetoácidos, levando a uma involução no desenvolvimento neuropsicomotor...
Subject(s)
Infant , Female , Humans , Maple Syrup Urine Disease/diet therapy , Physical Therapy Modalities , Exercise Therapy/methodsABSTRACT
Inborn errors of metabolism are individually rare but are an important cause of mortality and morbidity in infants and children. Dietary therapy is the mainstay of treatment in phenylketonuria, maple syrup urine disease, homocystinuria, galactosemia and glycogen storage disease (Type I/III). Some disorders like urea cycle disorders and organic acidurias require dietary modification in addition to other modalities. Certain basic principles of dietary management should be clearly understood for proper management of these disorders. Commercially available diets are very expensive and modification in routine Indian diet may be tried based on content of different nutrients but the desirable fine control is not achieved.
Subject(s)
Child , Diet Therapy/methods , Galactosemias/diet therapy , Glycogen Storage Disease/diet therapy , Homocystinuria/diet therapy , Humans , Maple Syrup Urine Disease/diet therapy , Metabolism, Inborn Errors/diagnosis , Phenylketonurias/diet therapyABSTRACT
La enfermedad de la orina olor a jarabe de arce, es una afección metabólica producida por deficiencia en la descarboxilación oxidativa de los quetoácidos provenientes de los aminoácidos ramificados valina, isoleucina y leucina. Los pacientes parecen normales hasta los 5 a 7 días de vida, cuando muestran rechazo a la alimentación, vómitos, olor a jarabe de arce en la orina y la piel y deterioro neurológico progresivo, que lleva rápidamente al coma. Se presentan tres niños con enfermedad de la orina olor a jarabe de arce clásica, leucina >2 000 µmol/1, que fueron diagnosticados a los 10, 20 y 21 días de vida, iniciándose inmediatamente el tratamiento en base a la dieta especial. el seguimiento está basado en evaluaciones clínicas, nutricionales y bioquímicas periódicas, para adecuar los requerimientos nutricionales a la evolución de la enfermedad. La evaluación psicométrica, escala de Bayley, mostró que el coeficiente de desarrollo mental estaba entre 50 y 82, relacionándose éste con la edad de diagnóstico. Actualmente los niños tienen entre 2 y 3 años de edad, se encuentran con dieta restringida en los 3 aminoácidos ramificados. Su control debe ser frecuente para evitar desbalances metabólicos y prevenir daños neurológicos ocasionados por éstos
Subject(s)
Child , Maple Syrup Urine Disease/diet therapy , Case-Control Studies , Isoleucine/metabolism , Leucine/metabolism , Maple Syrup Urine Disease/classification , Maple Syrup Urine Disease/physiopathology , Plasma/metabolism , Valine/metabolismABSTRACT
Phenylketonuria (PKU) and maple syrup urine disease (MSUD) are disorders of the amino acid metabolism. Treatment of PKU and MSUD, is based on the restriction of the involved amino acids. Diet must begin very early in life in order to prevent neurological sequelae. A wrong dietary produce central nervous system damage. The first clinical manifestations are unexplained failure to thrive, vomiting, feeding difficulties, lethargy, coma, acidosis and irritability. The most severe consequence is impaired mental development. The standard exchange foods list (EFL) used in outpatient clinics, is designed for developed countries, and contains foods that are not available in our countries. Therefore, we provide in this article a EFL, based on food that are frequently used in Central America, with data of existing food composition tables. This list is currently being used by the Costa Rica national Children's Hospital Metabolic Disease Unit.
Subject(s)
Child , Child, Preschool , Humans , Infant , Infant, Newborn , Dietetics , Maple Syrup Urine Disease/diet therapy , Food , Phenylketonurias , Amino Acids/administration & dosage , Developing Countries , Food , Food Supply , Feeding Behavior , Latin AmericaABSTRACT
Maple Syrup Urine Disease (MUSD) and Phenylketonuria (PKU), are two metabolic disease in which the nutritional management are essential. Nevertheless, in Costa Rica and the rest of Central America, the dietetical attention of the children with this illness aren't normalized. These work was developed to fill this necessity. The nutritional management was separate in three steps: 1-Initial diet: is the feeding that the children must receive while the blood amino acid level falls, 2-Stabilization diet: is the one where the requirement of limits amino acid are defined, 3-Follow up diet: this is the diet that is prescribed for the rest of his life. This attention methodology, was very important to an adequate physical and neurological development of the children with PKU and MSUD.
Subject(s)
Humans , Infant , Child , Child, Preschool , Maple Syrup Urine Disease/diet therapy , Phenylketonurias , Amino Acids/administration & dosage , Child Nutrition , Costa Rica , Diet Therapy , Maple Syrup Urine Disease/diagnosis , Infant Food , Infant, Newborn , Neonatal Screening , Nutritional Requirements , PhenylketonuriasABSTRACT
La fenilcetonuria (FC) y la enfermedad de la orina con olor a jarabe de arce (EOJA), son dos defectos en el metabolismo de los aminoácidos cuyo tratamiento es básicamente dietético. El mal manejo o la detección tardía de estas patologías pueden provocar falla para progresar o daños severos en el desarrollo intelectual del niño. La presente investigación tuvo como objetivo evaluar el efecto de la intervención nutricional sobre el peso corporal, la talla y los niveles de aminoácidos sanguíneos en niños con FC y MSUD. Se estudiaron todos aquellos niños con estas patologías detectados antes de los 2 meses de edad, de julio de 1989 a julio 1991 (FC=1, EOJA=3) en Costa Rica. Se les calcularon dietas con 120 a 200 Kcal/Kg peso/día, 1.7-3.5 gramos proteína/Kg peso/día y con aportes de grasa entre 35 y 45% del volumen calórico total, según el estado nutricional. Para el aporte de los aminoácidos involucrados, se utilizaron las recomendaciones de la FAO, OPS, OMS y de la Academia Americana de Pediatría. El estándar de peso y talla empleado fue el del NCHS y para el análisis sanguíneo se utilizó la prueba de Guthrie. Los resultados obtenidos muestran buenas velocidades de crecimiento en peso y talla en los niños y adecuados niveles de aminoácidos sanguíneos.
Subject(s)
Humans , Infant, Newborn , Infant , Amino Acids/metabolism , Maple Syrup Urine Disease/diet therapy , Nutrition Assessment , Phenylketonurias/diet therapy , Costa Rica , Metabolic DiseasesABSTRACT
Apresentaçäo de um caso de leucinose em recém-nascido do sexo feminino, diagnóstico no 26§ dia de vida. O quadro neurológico se caracteriza por alteraçöes do tono muscular, convulsöes, letargia e dificuldade respiratória. A demosntraçäo do aumento de aminoácidos de cadeia ramificada através do aminoacidograma constituiu o teste diagnóstico mais importante e o tratamento com MSUD resultou na boa evoluçäo da paciente