déficience enzymatique

Ces patients présentent une déficience enzymatique (glucocérébrosidase) qui induit une accumulation de lycosphingolipides appelés glucosylcéramides dans différentes parties du corps telles que la rate, le foie et les os.
Patients with this disease lack an enzyme called glucocerebrosidase, resulting in a glycosphingolipid called glucosylceramide building up in different parts of the body, such as the spleen, liver and bones.
Au fil du temps, lorsque la plupart de la glande est remplacée par un tissu conjonctif qui ne peut pas remplir la fonction de la glande, non seulement une déficience enzymatique se développe, mais aussi une pathologie endocrinienne sous la forme de diabète sucré.
Over time, when most of the gland is replaced by a connective tissue that can not perform the function of the gland, not only enzyme deficiency develops, but also endocrine pathology in the form of diabetes mellitus.
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