RESUMEN
Astrocytes play crucial roles in maintaining brain homeostasis and in orchestrating neural development, all through tightly coordinated steps that cooperate to maintain the balance needed for normal development. Here, we review the alterations in astrocyte functions that contribute to a variety of developmental neurometabolic disorders and provide additional data on the predominant role of astrocyte dysfunction in the neurometabolic neurodegenerative disease glutaric acidemia type I. Finally, we describe some of the therapeutical approaches directed to neurometabolic diseases and discuss if astrocytes can be possible therapeutic targets for treating these disorders.
Asunto(s)
Errores Innatos del Metabolismo de los Aminoácidos/diagnóstico , Errores Innatos del Metabolismo de los Aminoácidos/terapia , Astrocitos/patología , Encefalopatías Metabólicas/diagnóstico , Encefalopatías Metabólicas/terapia , Encéfalo/patología , Glutaril-CoA Deshidrogenasa/deficiencia , Enfermedad de Alexander/diagnóstico , Enfermedad de Alexander/metabolismo , Enfermedad de Alexander/patología , Enfermedad de Alexander/terapia , Errores Innatos del Metabolismo de los Aminoácidos/metabolismo , Errores Innatos del Metabolismo de los Aminoácidos/patología , Antioxidantes/uso terapéutico , Astrocitos/efectos de los fármacos , Astrocitos/metabolismo , Encéfalo/efectos de los fármacos , Encéfalo/metabolismo , Encefalopatías Metabólicas/metabolismo , Encefalopatías Metabólicas/patología , Ceruloplasmina/deficiencia , Ceruloplasmina/metabolismo , Dieta/métodos , Manejo de la Enfermedad , Glucosa/uso terapéutico , Glutamato-Amoníaco Ligasa/deficiencia , Glutamato-Amoníaco Ligasa/metabolismo , Glutaril-CoA Deshidrogenasa/metabolismo , Encefalopatía Hepática/diagnóstico , Encefalopatía Hepática/metabolismo , Encefalopatía Hepática/patología , Encefalopatía Hepática/terapia , Homeostasis , Humanos , Trastornos del Metabolismo del Hierro/diagnóstico , Trastornos del Metabolismo del Hierro/metabolismo , Trastornos del Metabolismo del Hierro/patología , Trastornos del Metabolismo del Hierro/terapia , Enfermedades Neurodegenerativas/diagnóstico , Enfermedades Neurodegenerativas/metabolismo , Enfermedades Neurodegenerativas/patología , Enfermedades Neurodegenerativas/terapia , Neurogénesis/efectos de los fármacos , Enfermedad de Niemann-Pick Tipo C/diagnóstico , Enfermedad de Niemann-Pick Tipo C/metabolismo , Enfermedad de Niemann-Pick Tipo C/patología , Enfermedad de Niemann-Pick Tipo C/terapia , Enfermedad por Deficiencia de Piruvato Carboxilasa/diagnóstico , Enfermedad por Deficiencia de Piruvato Carboxilasa/metabolismo , Enfermedad por Deficiencia de Piruvato Carboxilasa/patología , Enfermedad por Deficiencia de Piruvato Carboxilasa/terapia , Desintoxicación por SorciónRESUMEN
INTRODUCTION: Alexander disease is a disorder caused by a mutation and accumulation of the glial fibrillary acidic protein. Currently, three subtypes are acknowledged: an infantile, a juvenile, and an adult form. However, onset early in infancy or in the prenatal period has been shown to present with a uniform pattern of symptoms-suggesting the presence of a distinct neonatal form of the disease. RESULTS AND DISCUSSION: Though the neonatal form of Alexander disease is not well acknowledged, a uniform and distinct presentation of the disease in neonates has been observed, suggesting the need for a different course of identification and treatment. Clinical presentation of the neonatal form is distinguished by leukodystrophy and generalized, frequent, and intractable seizures. While the infantile form presents with ataxia, hyperreflexia, and other upper motor neuron symptoms, none of these has been observed in the neonatal form. In the diagnosis of neonatal Alexander disease, it is essential to rule out other causes of leukodystrophy and the presence of neoplasms.