Galactosemia

Descripción General

Definición

La galactosemia Galactosemia Galactosemia is a disorder caused by defects in galactose metabolism. Galactosemia is an inherited, autosomal-recessive condition, which results in inadequate galactose processing and high blood levels of monosaccharide. The rare disorder often presents in infants with symptoms of lethargy, nausea, vomiting, diarrhea, and jaundice. Galactosemia es un error Error Refers to any act of commission (doing something wrong) or omission (failing to do something right) that exposes patients to potentially hazardous situations. Disclosure of Information congénito autosómico recesivo del metabolismo de los LOS Neisseria carbohidratos 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 incapacidad del cuerpo para metabolizar la galactosa 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 glucosa.

Clasificación

• Tipo I (clásico):
  • Forma más común y grave
  • Deficiencia de galactosa-1-fosfato uridiltransferasa
  • Se presenta días después del nacimiento con letargo, 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, ictericia y otras características de lesión hepática
• Tipo II:
  • Deficiencia de galactosa quinasa
  • Variedad leve (limitada o sin síntomas)
• Tipo III:
  • Deficiencia de galactosa-6-fosfato epimerasa
  • La presentación varía de enfermedad leve a grave; puede incluir cataratas, 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 y enfermedad renal

Etiología

La galactosemia Galactosemia Galactosemia is a disorder caused by defects in galactose metabolism. Galactosemia is an inherited, autosomal-recessive condition, which results in inadequate galactose processing and high blood levels of monosaccharide. The rare disorder often presents in infants with symptoms of lethargy, nausea, vomiting, diarrhea, and jaundice. Galactosemia es un trastorno hereditario causado por una mutación genética que conduce a una deficiencia enzimática.

• Tipo I: el gen GALT GALT Secondary Lymphatic Organs (cromosoma 9p13) codifica para galactosa-1-fosfato uridililtransferasa, convirtiendo galactosa-1-fosfato 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 UDP-galactosa
• Tipo II: el gen GALK1 (cromosoma 17q24) codifica la galactoquinasa, convirtiendo la galactosa 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 galactosa-1-fosfato
• Tipo III: gen GALE (cromosoma 1p36–p35) codifica UDP-galactosa-4-epimerasa, convirtiendo UDP-galactosa 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 UDP-glucosa

La condición es autosómica recesiva: cada hijo tiene un 25 % de posibilidades de heredar la enfermedad si ambos padres están afectados.

Epidemiología

• Prevalencia de galactosemia Galactosemia Galactosemia is a disorder caused by defects in galactose metabolism. Galactosemia is an inherited, autosomal-recessive condition, which results in inadequate galactose processing and high blood levels of monosaccharide. The rare disorder often presents in infants with symptoms of lethargy, nausea, vomiting, diarrhea, and jaundice. Galactosemia tipo I: 1 por cada 30 000–60 000 nacidos vivos
• Prevalencia de galactosemia Galactosemia Galactosemia is a disorder caused by defects in galactose metabolism. Galactosemia is an inherited, autosomal-recessive condition, which results in inadequate galactose processing and high blood levels of monosaccharide. The rare disorder often presents in infants with symptoms of lethargy, nausea, vomiting, diarrhea, and jaundice. Galactosemia tipo II y tipo III: menos de 1 por cada 100 000 nacidos vivos
• La prevalencia varía:
  • Geográficamente:
    • 1 de cada 30 000 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
    • 1 por 1 000 000 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 Japón
  • Por etnia:
    • Más frecuente 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 población de viajeros irlandeses (prevalencia: 1 por 480)

Presentación Clínica

Los LOS Neisseria síntomas pueden aparecer días o semanas después del nacimiento.

Diagnóstico

Tamizaje

• La prueba de detección de recién nacidos es común 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 muchas regiones.
• Se recomienda la amniocentesis Amniocentesis Percutaneous transabdominal puncture of the uterus during pregnancy to obtain amniotic fluid. It is commonly used for fetal karyotype determination in order to diagnose abnormal fetal conditions. Polyhydramnios o la muestra de vellosidades coriónicas para las familias con antecedentes de galactosemia Galactosemia Galactosemia is a disorder caused by defects in galactose metabolism. Galactosemia is an inherited, autosomal-recessive condition, which results in inadequate galactose processing and high blood levels of monosaccharide. The rare disorder often presents in infants with symptoms of lethargy, nausea, vomiting, diarrhea, and jaundice. Galactosemia.

Prueba de galactosemia Galactosemia Galactosemia is a disorder caused by defects in galactose metabolism. Galactosemia is an inherited, autosomal-recessive condition, which results in inadequate galactose processing and high blood levels of monosaccharide. The rare disorder often presents in infants with symptoms of lethargy, nausea, vomiting, diarrhea, and jaundice. Galactosemia

La prueba debe realizarse 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 todos los LOS Neisseria bebés que presenten síntomas.

• Análisis de sangre u orina: verifica las enzimas necesarias para procesar la galactosa
• Galactosa-1-fosfato elevado 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 eritrocitos
• Baja actividad de la enzima GALT GALT Secondary Lymphatic Organs = prueba positiva

Tratamiento y Complicaciones

Tratamiento

• Evitar de por vida la lactosa y la galactosa:
  • Fórmula de soja
  • Fórmula sin lactosa
  • Evite los LOS Neisseria productos lácteos
• Suplementos de calcio
• Logopedia para pacientes con déficits del lenguaje
• Terapia hormonal para pacientes con pubertad retrasada
• Considere el asesoramiento genético

Complicaciones

• Insuficiencia ovárica prematura
• Déficits neurológicos permanentes (e.g., déficits del habla)
• Disminución de la densidad ósea con mayor riesgo de fractura

Diagnóstico Diferencial

• Intolerancia a la lactosa: una condición causada por la incapacidad de procesar la lactosa. Los LOS Neisseria síntomas ocurren después de la ingestión de lactosa. Los LOS Neisseria pacientes presentan molestias gastrointestinales como dolor Dolor Inflammation abdominal, diarrea, flatos y náuseas. El diagnóstico se basa 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 antecedentes clínicos. El tratamiento consiste 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 eliminar la lactosa de la dieta. La suplementación con lactasa se puede ofrecer a los LOS Neisseria pacientes que continúan consumiendo productos con lactosa. A diferencia de la intolerancia a la lactosa, no hay ningún suplemento disponible para pacientes con galactosemia Galactosemia Galactosemia is a disorder caused by defects in galactose metabolism. Galactosemia is an inherited, autosomal-recessive condition, which results in inadequate galactose processing and high blood levels of monosaccharide. The rare disorder often presents in infants with symptoms of lethargy, nausea, vomiting, diarrhea, and jaundice. Galactosemia. La galactosemia Galactosemia Galactosemia is a disorder caused by defects in galactose metabolism. Galactosemia is an inherited, autosomal-recessive condition, which results in inadequate galactose processing and high blood levels of monosaccharide. The rare disorder often presents in infants with symptoms of lethargy, nausea, vomiting, diarrhea, and jaundice. Galactosemia puede provocar insuficiencia renal y neurológica grave; sin embargo, la presentación clínica es más leve 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 intolerancia a la lactosa.
• Atresia Atresia Hypoplastic Left Heart Syndrome (HLHS) biliar: una condición causada por fibrosis Fibrosis Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury. Bronchiolitis Obliterans y obliteración de los LOS Neisseria conductos biliares. La atresia Atresia Hypoplastic Left Heart Syndrome (HLHS) biliar es una condición rara y un poco más común 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 mujeres. Dentro de los LOS Neisseria 1os 2 meses de vida, los LOS Neisseria niños presentan ictericia progresiva, heces blancas, orina de color café oscuro y hepatoesplenomegalia. Se requiere biopsia hepática para el diagnóstico definitivo y la modalidad de tratamiento definitivo es la cirugía. A diferencia de la galactosemia Galactosemia Galactosemia is a disorder caused by defects in galactose metabolism. Galactosemia is an inherited, autosomal-recessive condition, which results in inadequate galactose processing and high blood levels of monosaccharide. The rare disorder often presents in infants with symptoms of lethargy, nausea, vomiting, diarrhea, and jaundice. Galactosemia, la presentación con déficit neurológicos es poco común 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 niños.
• Hemocromatosis: un trastorno autosómico recesivo que causa una sobrecarga severa de hierro. La condición es causada por mutaciones genéticas, que conducen a una baja producción de hepcidina y al AL Amyloidosis aumento resultante de la absorción de hierro. La tríada clásica de síntomas incluye cirrosis, diabetes Diabetes Diabetes mellitus (DM) is a metabolic disease characterized by hyperglycemia and dysfunction of the regulation of glucose metabolism by insulin. Type 1 DM is diagnosed mostly in children and young adults as the result of autoimmune destruction of β cells in the pancreas and the resulting lack of insulin. Type 2 DM has a significant association with obesity and is characterized by insulin resistance. Diabetes Mellitus y aumento de la pigmentación de la piel. Los LOS Neisseria pacientes son diagnosticados a través de una combinación de estudios de hierro, pruebas genéticas (que muestran mutaciones genéticas conocidas) y biopsia (cuando el enfoque inicial no es diagnóstico). Los LOS Neisseria pacientes requieren flebotomía, quelación de hierro y restricción dietética para su manejo. A diferencia de la galactosemia Galactosemia Galactosemia is a disorder caused by defects in galactose metabolism. Galactosemia is an inherited, autosomal-recessive condition, which results in inadequate galactose processing and high blood levels of monosaccharide. The rare disorder often presents in infants with symptoms of lethargy, nausea, vomiting, diarrhea, and jaundice. Galactosemia, la hemocromatosis suele presentarse más tarde 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 vida (5ta o 6ta década). La hemocromatosis juvenil es poco común, pero puede 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 2da década de la vida.