Trastornos del Ciclo de la Urea

Descripción General

Definición

Los LOS Neisseria trastornos del ciclo de la urea Urea A compound formed in the liver from ammonia produced by the deamination of amino acids. It is the principal end product of protein catabolism and constitutes about one half of the total urinary solids. Urea Cycle son un grupo de síndromes resultantes de mutaciones genéticas que causan deficiencias en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum las enzimas y los LOS Neisseria transportadores de los LOS Neisseria aminoácidos del ciclo de la urea Urea A compound formed in the liver from ammonia produced by the deamination of amino acids. It is the principal end product of protein catabolism and constitutes about one half of the total urinary solids. Urea Cycle, lo que resulta en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la acumulación de productos de desecho nitrogenados.

Epidemiología

• Incidencia:
  • A nivel mundial: 1 por cada 35 000 nacidos vivos
  • Estados Unidos: 1 por cada 8 200 nacidos vivos
  • Mayor en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum individuos con defectos parciales
  • Difícil de cuantificar: los LOS Neisseria datos de prevalencia son difíciles de rastrear.
• Incidencia anual: aproximadamente 113 casos nuevos en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum Estados Unidos y 149 en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum Europa
• Sintomático en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el período neonatal: aproximadamente el 26% de los LOS Neisseria casos
• Actualmente, solo se detectan 2 trastornos del ciclo de la urea Urea A compound formed in the liver from ammonia produced by the deamination of amino acids. It is the principal end product of protein catabolism and constitutes about one half of the total urinary solids. Urea Cycle mediante pruebas de tamizaje en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum recién nacidos en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum los LOS Neisseria Estados Unidos.

Etiología

Todos los LOS Neisseria trastornos del ciclo de la urea Urea A compound formed in the liver from ammonia produced by the deamination of amino acids. It is the principal end product of protein catabolism and constitutes about one half of the total urinary solids. Urea Cycle provienen de anomalías genéticas, que causan deficiencias en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum enzimas importantes para el ciclo de la urea Urea A compound formed in the liver from ammonia produced by the deamination of amino acids. It is the principal end product of protein catabolism and constitutes about one half of the total urinary solids. Urea Cycle:

• Deficiencia de carbamil fosfato sintetasa I
• Deficiencia de N-acetilglutamato sintetasa
• Deficiencia de ornitina transcarbamilasa
• Deficiencia de arginasa
• Deficiencia de argininosuccinato sintetasa (citrulinemia clásica/tipo I)
• Deficiencia de argininosuccinato liasa (aciduria argininosuccínica)

Todos los LOS Neisseria trastornos del ciclo de la urea Urea A compound formed in the liver from ammonia produced by the deamination of amino acids. It is the principal end product of protein catabolism and constitutes about one half of the total urinary solids. Urea Cycle se heredan como rasgos autosómicos recesivos, excepto la deficiencia de ornitina transcarbamilasa (rasgo recesivo ligado al AL Amyloidosis cromosoma X).

Fisiopatología

Fisiología normal del ciclo de la urea Urea A compound formed in the liver from ammonia produced by the deamination of amino acids. It is the principal end product of protein catabolism and constitutes about one half of the total urinary solids. Urea Cycle:

• Produce aminoácidos: arginina, ornitina y citrulina
• Mecanismo para la eliminación de nitrógeno a través de la degradación de proteínas (catabolismo)
• El catabolismo de proteínas da como resultado la producción de amoníaco.
• El amoníaco se convierte en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum urea Urea A compound formed in the liver from ammonia produced by the deamination of amino acids. It is the principal end product of protein catabolism and constitutes about one half of the total urinary solids. Urea Cycle.

El deterioro del ciclo de la urea Urea A compound formed in the liver from ammonia produced by the deamination of amino acids. It is the principal end product of protein catabolism and constitutes about one half of the total urinary solids. Urea Cycle en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el hígado provoca hiperamonemia (acumulación de amoníaco en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la sangre). Según la gravedad y la edad de manifestación, el amoníaco puede causar efectos neurotóxicos en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el cerebro.

Presentación Clínica

Período neonatal

• En EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el caso de un trastorno grave, los LOS Neisseria síntomas suelen aparecer después de las 1ras 24 horas de vida.
• Los LOS Neisseria síntomas aparecen después de la alimentación.
• Comúnmente mal diagnosticado como síndrome de Reye o sepsis Sepsis Systemic inflammatory response syndrome with a proven or suspected infectious etiology. When sepsis is associated with organ dysfunction distant from the site of infection, it is called severe sepsis. When sepsis is accompanied by hypotension despite adequate fluid infusion, it is called septic shock. Sepsis and Septic Shock
• Síntomas:
  • Irritabilidad
  • Rechazo al AL Amyloidosis alimento
  • Vómitos
  • Letargo
  • Convulsiones
  • Flacidez
  • Alcalosis respiratoria
  • Coma Coma Coma is defined as a deep state of unarousable unresponsiveness, characterized by a score of 3 points on the GCS. A comatose state can be caused by a multitude of conditions, making the precise epidemiology and prognosis of coma difficult to determine. Coma

Infancia

• Casos leves/moderados de trastornos del ciclo de la urea Urea A compound formed in the liver from ammonia produced by the deamination of amino acids. It is the principal end product of protein catabolism and constitutes about one half of the total urinary solids. Urea Cycle presentes en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la infancia temprana.
• Si la afección permanece sin diagnosticar, puede ocurrir hiperamonemia que conduce al AL Amyloidosis coma Coma Coma is defined as a deep state of unarousable unresponsiveness, characterized by a score of 3 points on the GCS. A comatose state can be caused by a multitude of conditions, making the precise epidemiology and prognosis of coma difficult to determine. Coma y la muerte.
• Síntomas:
  • Retraso en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el desarrollo
  • Llanto excesivo
  • Agitación
  • Comportamientos autoagresivos
  • Rechazo a alimentos ricos en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum proteínas
  • Letargo
  • Delirio

Edad adulta

• Los LOS Neisseria individuos con deficiencias leves pueden no ser diagnosticados durante la infancia.
• Los LOS Neisseria síntomas en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum los LOS Neisseria casos leves pueden observarse después de un episodio de enfermedad viral, ejercicio excesivo, consumo de medicamentos (e.g., ácido valproico) o parto.
• Síntomas:
  • Dificultad para hablar
  • Desorientación
  • Confusión
  • Agitación
  • Delirio
  • Letargo
  • Síntomas parecidos a un accidente cerebrovascular
  • Problemas psiquiátricos como el trastorno bipolar Bipolar Nervous System: Histology y la esquizofrenia

Diagnóstico

• Evaluar el nivel de amoníaco si:
  • Tamizaje positivo al AL Amyloidosis nacer
  • Presenta síntomas clínicos
  • Existen antecedentes familiares positivos de 3 generaciones: enfocarse en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum familiares con problemas neurológicos.
• Estudios adicionales para descartar trastornos del ciclo de la urea Urea A compound formed in the liver from ammonia produced by the deamination of amino acids. It is the principal end product of protein catabolism and constitutes about one half of the total urinary solids. Urea Cycle si:
  • Concentración de amoníaco en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum plasma Plasma The residual portion of blood that is left after removal of blood cells by centrifugation without prior blood coagulation. Transfusion Products ≥ 100–150 μmol/L
  • Brecha aniónica normal
  • Concentración normal de glucosa en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum plasma Plasma The residual portion of blood that is left after removal of blood cells by centrifugation without prior blood coagulation. Transfusion Products
• Concentraciones de aminoácidos en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum plasma Plasma The residual portion of blood that is left after removal of blood cells by centrifugation without prior blood coagulation. Transfusion Products:
  • Arginina:
    • ↑ Cuatro veces en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la deficiencia de arginasa
    • ↓ Deficiencia de carbamil fosfato sintetasa I
    • ↓ Deficiencia de ornitina transcarbamilasa
    • ↓ Deficiencia de N-acetilglutamato sintetasa
  • Glutamina:
    • ↑ Deficiencia de carbamil fosfato sintetasa I
    • ↑ Deficiencia de ornitina transcarbamilasa
    • ↑ Deficiencia de N-acetilglutamato sintetasa
  • Citrulina:
    • ↑ Deficiencia de argininosuccinato sintetasa
    • ↑ Deficiencia de argininosuccinato liasa
    • ↓ Deficiencia de carbamil fosfato sintetasa I
    • ↓ Deficiencia de ornitina transcarbamilasa
    • ↓ Deficiencia de N-acetilglutamato sintetasa
  • Ácido argininosuccínico:
    • Ausente en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la deficiencia de argininosuccinato sintetasa
    • ↑ Deficiencia de argininosuccinato liasa
• Ácido orótico en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum orina:
  • ↑ Deficiencia de ornitina transcarbamilasa
  • ↓ Deficiencia de carbamil fosfato sintetasa I
• Pruebas de genética molecular:
  • Método de diagnóstico primario
  • Superior a la actividad enzimática como método de prueba definitivo
• Ensayo de actividad enzimática
• Tamizaje en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum recién nacidos: realizado de manera inconsistente en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum los LOS Neisseria Estados Unidos

Tratamiento

El tratamiento debe adaptarse al AL Amyloidosis trastorno específico:

Tratamiento agudo

• Estabilización fisiológica:
  • Líquidos intravenosos
  • Vasopresores cardiacos
• Interrupción de la dieta proteica durante 12–24 horas
• Para reducir la concentración de amoníaco en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el plasma Plasma The residual portion of blood that is left after removal of blood cells by centrifugation without prior blood coagulation. Transfusion Products:
  • Diálisis
  • Hemofiltración
• Para excretar el exceso de nitrógeno a través de una vía alternativa al AL Amyloidosis ciclo de la urea Urea A compound formed in the liver from ammonia produced by the deamination of amino acids. It is the principal end product of protein catabolism and constitutes about one half of the total urinary solids. Urea Cycle:
  • Clorhidrato de arginina intravenoso
  • Benzoato de sodio intravenoso
  • Fenilacetato de sodio intravenoso
• Individuos estables: nutrición enteral con calorías provenientes de glucosa, grasas y aminoácidos esenciales (trata el estado catabólico de las proteínas)
• Individuos inestables: nutrición parenteral total
• Monitor con electroencefalograma ( EEG EEG Seizures) continuo para detectar convulsiones subclínicas.

Continuación de la terapia después de la estabilización

• Iniciar alimentación enteral con nutrición libre de proteínas:
  • Fórmula especial para lactantes
  • Suplemento con aminoácidos mixtos
• Controlar de cerca la ingesta diaria de proteínas:
  • Suficientes para el crecimiento normal basado en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la edad
  • Transición a la medicación oral.
  • Vigilar el nivel sérico de los LOS Neisseria aminoácidos esenciales.

Hiperamonemia no tratada

La hiperamonemia no tratada puede causar:

• Encefalopatía urémica
• Convulsiones
• Coma Coma Coma is defined as a deep state of unarousable unresponsiveness, characterized by a score of 3 points on the GCS. A comatose state can be caused by a multitude of conditions, making the precise epidemiology and prognosis of coma difficult to determine. Coma
• Muerte

Diagnóstico Diferencial

• Defectos de oxidación de ácidos grasos: trastornos genéticos que resultan en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum fallas en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el transporte de ácidos grasos a la mitocondria o en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el metabolismo por parte de la mitocondria. La presentación es variable Variable Variables represent information about something that can change. The design of the measurement scales, or of the methods for obtaining information, will determine the data gathered and the characteristics of that data. As a result, a variable can be qualitative or quantitative, and may be further classified into subgroups. Types of Variables, pero las formas más graves se presentan solo unos días después del nacimiento. Los LOS Neisseria individuos presentan bajo tono muscular, degeneración retiniana, insuficiencia hepática, miocardiopatía, fatiga y muerte súbita en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum las formas más graves. Los LOS Neisseria hallazgos de laboratorio incluyen hiperamonemia, hipoglucemia y pruebas de función hepática elevadas, aspartato aminotransferasa/alanina aminotransferasa ( AST AST Enzymes of the transferase class that catalyze the conversion of l-aspartate and 2-ketoglutarate to oxaloacetate and l-glutamate. Liver Function Tests/ ALT ALT An enzyme that catalyzes the conversion of l-alanine and 2-oxoglutarate to pyruvate and l-glutamate. Liver Function Tests). El diagnóstico generalmente se realiza a través del tamizaje del recién nacido.
• Trastornos del metabolismo del piruvato: un grupo de trastornos hereditarios causados por deficiencias de enzimas en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la ruta del metabolismo del piruvato. Los LOS Neisseria piruvatos son sustratos creados durante el metabolismo de proteínas y carbohidratos, que funcionan como fuente de energía celular. Dependiendo de la gravedad, los LOS Neisseria síntomas pueden presentarse en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la infancia temprana o en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la infancia tardía y pueden incluir retraso en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el crecimiento y/o convulsiones. El diagnóstico definitivo se obtiene mediante análisis enzimático de fibroblastos cutáneos cultivados o análisis de ácido desoxirribonucleico (ADN).
• Enfermedad del hígado y del tracto biliar: causada por múltiples etiologías que incluyen atresia Atresia Hypoplastic Left Heart Syndrome (HLHS) biliar, insuficiencia hepática aguda y cirrosis hepática. La insuficiencia de la función hepática puede provocar hiperamonemia, que imita los LOS Neisseria hallazgos de laboratorio y los LOS Neisseria síntomas de los LOS Neisseria trastornos del ciclo de la urea Urea A compound formed in the liver from ammonia produced by the deamination of amino acids. It is the principal end product of protein catabolism and constitutes about one half of the total urinary solids. Urea Cycle.