Síndrome similar a Fanconi-Bickel asociado a enfermedad de la - TopicsExpress

Síndrome similar a Fanconi-Bickel asociado a enfermedad de la orina de jarabe de arce Rev Med MD 2013; 4(3) : 197-203 Autores: Flores Alvarado Luis Javier, Ramírez Garcia Sergio Alberto, Bueno Topete Miriam Ruth, Dávalos Rodríguez Nory, Ayub Ayala Mónica, Gurrola Díaz Carmen Magdalena, Sánchez Enríquez Sergio, et al. La enfermedad de orina jarabe de arce es un error innato del metabolismo poco frecuente. Se debe a mutaciones en los genes que codifican para proteínas que participan en el catabolismo de los aminoácidos de cadena ramificada, las cuales generan cinco variantes. La variante más común es causada por déficit de la enzima BCKDHA y la menos frecuente es por déficit de dihidrolipoamida deshidrogenasa. (19) imbiomed.mx/1/1/articulos.php?method=showDetail&id_articulo=92749&id_seccion=3887&id_ejemplar=9098&id_revista=236

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