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2013, Número 3

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Rev Med MD 2013; 4.5 (3)


Síndrome similar a Fanconi-Bickel asociado a enfermedad de la orina de jarabe de arce

Flores-Alvarado LJ, Ramírez-García SA, Bueno-Topete M, Dávalos-Rodríguez NO, Ayub-Ayala M, Gurrola-Diaz C, Sánchez-Enríquez S, Ruiz-Mejía R, Villa-Ruano N, Ramón-Canul L

Idioma: Español
Referencias bibliográficas: 29
Paginas: 197-203
Archivo PDF: 603.20 Kb.


RESUMEN

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. Presentamos un caso en un neonato masculino con rasgos clínicos de la variante clásica como son los niveles muy elevados de aminoácidos de cadena ramificada, periodos de apnea prolongados, orina con olor característico, así como hipoglucemia y la hiperlactacidemia patognomónico de la dihidrolipoamida deshidrogenasa. Los hallazgos encontrados en este reporte son concluyentes con un síndrome hepatorrenal similar a Fanconi-Bickel asociado a la deficiencia conjunta de dos enzimas del complejo BCKDHA no descritos previamente.


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