RESUMO
Los trastornos del ciclo de la urea suponen hasta el 60% de las hiperamoniernias graves neonatales. La base de los trastornos de este ciclo deriva en el déficit de una de sus enzimas. El déficit de la enzima ornitina transcarbamilasa es el más frecuente. Su pronóstico dependerá del grado de deficiencia enzimàtica, la edad, la precocidad del diagnóstico e inicio del tratamiento. Presentamos el caso de un adolescente que, a partir de un cuadro de parálisis facial periférica tratado con prednisona, presentó agravamiento de su estado general y falleció a los pocos días. Las cifras elevadas de amoniaco en sangre hicieron sospechar tardíamente de una alteración congénita del ciclo de la urea, que fue confirmada por su estudio genético post mortem. Se estudiaron los familiares y se asesoró a los afectos y portadores. Reflexionamos sobre la importancia de los programas de cribado neonatal y la posibilidad de aplicarlos en la detección de los errores congénitos del metabolismo.
Disorders of urea cycle account for up to 60% of severe neonatal hyperamoniemias. The base of this cycle disorders results in a deficit of its enzymes. Deficiency of the enzyme ornithine transcarbamylase is the most frequently detected. The prognosis depends on the degree of enzyme deficiency, age, early diagnosis and initiation of treatment. We report the case of a teenager who was treated with prednisone because of a peripheral facial palsy. He showed a progressive worsening and died a few days later. The high levels of ammonia made suspect a congenital disorder of urea cycle. The postmortem genetic study confirmed it. We studied the family and advised carriers. We reflect about the importance of the neonatal screening programs and their applicability for detection of inborn errors of metabolism.
Assuntos
Humanos , Masculino , Criança , Adolescente , Pediatria , Triagem Neonatal , Doença da Deficiência de Ornitina Carbomoiltransferase , Distúrbios Congênitos do Ciclo da UreiaRESUMO
Los trastornos del ciclo de la urea suponen hasta el 60% de las hiperamoniernias graves neonatales. La base de los trastornos de este ciclo deriva en el déficit de una de sus enzimas. El déficit de la enzima ornitina transcarbamilasa es el más frecuente. Su pronóstico dependerá del grado de deficiencia enzimOtica, la edad, la precocidad del diagnóstico e inicio del tratamiento. Presentamos el caso de un adolescente que, a partir de un cuadro de parálisis facial periférica tratado con prednisona, presentó agravamiento de su estado general y falleció a los pocos días. Las cifras elevadas de amoniaco en sangre hicieron sospechar tardíamente de una alteración congénita del ciclo de la urea, que fue confirmada por su estudio genético post mortem. Se estudiaron los familiares y se asesoró a los afectos y portadores. Reflexionamos sobre la importancia de los programas de cribado neonatal y la posibilidad de aplicarlos en la detección de los errores congénitos del metabolismo.(AU)
Disorders of urea cycle account for up to 60% of severe neonatal hyperamoniemias. The base of this cycle disorders results in a deficit of its enzymes. Deficiency of the enzyme ornithine transcarbamylase is the most frequently detected. The prognosis depends on the degree of enzyme deficiency, age, early diagnosis and initiation of treatment. We report the case of a teenager who was treated with prednisone because of a peripheral facial palsy. He showed a progressive worsening and died a few days later. The high levels of ammonia made suspect a congenital disorder of urea cycle. The postmortem genetic study confirmed it. We studied the family and advised carriers. We reflect about the importance of the neonatal screening programs and their applicability for detection of inborn errors of metabolism.(AU)
RESUMO
Disorders of urea cycle account for up to 60% of severe neonatal hyperamoniemias. The base of this cycle disorders results in a deficit of its enzymes. Deficiency of the enzyme ornithine transcarbamylase is the most frequently detected. The prognosis depends on the degree of enzyme deficiency, age, early diagnosis and initiation of treatment. We report the case of a teenager who was treated with prednisone because of a peripheral facial palsy. He showed a progressive worsening and died a few days later. The high levels of ammonia made suspect a congenital disorder of urea cycle. The postmortem genetic study confirmed it. We studied the family and advised carriers. We reflect about the importance of the neonatal screening programs and their applicability for detection of inborn errors of metabolism.
Assuntos
Doença da Deficiência de Ornitina Carbomoiltransferase , Adolescente , Evolução Fatal , Humanos , Masculino , Doença da Deficiência de Ornitina Carbomoiltransferase/diagnósticoRESUMO
Disorders of urea cycle account for up to 60
of severe neonatal hyperamoniemias. The base of this cycle disorders results in a deficit of its enzymes. Deficiency of the enzyme ornithine transcarbamylase is the most frequently detected. The prognosis depends on the degree of enzyme deficiency, age, early diagnosis and initiation of treatment. We report the case of a teenager who was treated with prednisone because of a peripheral facial palsy. He showed a progressive worsening and died a few days later. The high levels of ammonia made suspect a congenital disorder of urea cycle. The postmortem genetic study confirmed it. We studied the family and advised carriers. We reflect about the importance of the neonatal screening programs and their applicability for detection of inborn errors of metabolism.
