Congenital carbohydrate metabolism disorders

What is it?

Rare metabolic diseases are congenital diseases that encompass a large heterogeneous group of conditions caused by a certain deficiency in one of the metabolic pathways. That is, they are caused by a change in those biochemical processes that allow the cell to use and break down substances such as carbohydrates (sugars) into simpler compounds for energy. Energy is necessary for the cell to maintain its vital biological functions, in order to ensure tissue growth, muscle contraction, heart contraction, transmission of nerve impulses, removal of toxic substances and many other functions.

Some examples of congenital disorders of carbohydrate metabolism:

  • glycogenosis, numerous forms of which are known; in general, we recognize glycogenosis of the liver and muscles, these are diseases characterized by enzymatic or protein deficiency, which cause hyperaccumulation of glycogen in various organs and tissues. At least 12 forms are classified. The frequency of all forms is 1/20000 newborns;
  • metabolic disorders of galactose, in particular galactosemia, of which three variants are recognized due to enzymatic deficiency;
  • disturbances in fructose metabolism two congenital errors in fructose metabolism have been documented: benign or essential fructosuria and hereditary fructose intolerance;
  • disorders of intermediate carbohydrate metabolism associated with lactic acidosis;
  • disorders of gluconeogenesis;
  • metabolic disorders of pyruvate;
  • violations of the exchange of pentoses.

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.

Suggested exams

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).

Where do we treat it?

Within the San Donato Group, you can find Congenital carbohydrate metabolism disorders specialists at these departments:

Are you interested in receiving the treatment?

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