Congenital carbohydrate metabolism disorders
How is it diagnosed?
The diagnosis differs depending on the form. Genetic mutation analysis is used whenever possible. Biopsies of the liver or various target tissues may be indicated, depending on the type of disease suspected.
How is it treated?
There is no definite answer. There are significant differences in the type of disease. In some cases, which fortunately are becoming more rare, there is no specific treatment and it should be limited to eliminating symptoms as much as possible. In other cases, it may be necessary to develop a diet appropriate for the disease. Third, a supplement with a missing enzyme can be used (e.g., for Pompe disease, muscle glycogenosis).