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Código SKU: PDMH100013_100μg-ES
Proteína MCEE humana recombinante (etiqueta His), 100 μg
La metilmalonil-CoA epimerasa mitocondrial (MCEE) es una enzima perteneciente a la familia de las glioxalasas I. Convierte la (S)-metilmalonil-CoA en la forma (R) y cataliza la siguiente reacción química: (R)-metilmalonil-CoA (S)-metilmalonil-CoA. Desempeña un papel importante en el catabolismo de los ácidos grasos con cadenas carbonadas de longitud irregular. Esta deficiencia proteica es un error congénito autosómico recesivo del metabolismo de los ácidos grasos omega-3 (AA), que afecta a valina, treonina, isoleucina y metionina. Esta aciduria orgánica puede aparecer en el período neonatal con acidosis metabólica potencialmente mortal, hiperamonemia, dificultades alimentarias, pancitopenia y coma.
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