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Glycogenosis



A group of enzymopathies in which the breakdown and synthesis of glycogen are disrupted, which leads to its accumulation in various organs (liver, kidneys, muscles)

Etiology. The type of inheritance is an autosomal recessive disease, depending on the nature of the enzyme defect, 12 types are distinguished.

Diagnostic criteria

Type I - hepatorenal glycogenosis (Girke's disease).

Clinical criteria: hepatomegaly (dense liver with a smooth surface), large abdomen; growth retardation, “puppet” type of a child (short stature, short limbs, enlarged abdomen, muscle strength is reduced), on the skin - xanthomas; in the first weeks of life: lethargy, adynamia, sometimes vomiting, malnutrition; hypoglycemic conditions: pallor, sweating, convulsions, coma; due to hypoglycemia, appetite is increased; mental development does not suffer; sexual development is late. On palpation - enlargement of the liver, dense, smooth, painless, the edge descends into the small pelvis.

Laboratory data: fasting hypoglycemia, the diabetic nature of the glucose tolerance test, the absence of an increase in blood sugar in response to the administration of adrenaline and glucagon, hyperketonemia, acetonuria; an increase in glycogen content in liver cells (in the study of biopsy), an increase in glycogen content in peripheral blood cells.

Hyperlactatemia, hyperuricemia are also characteristic.

Type II - glycogenic cardiomegaly (Pompe disease).

It manifests itself as a common deposition of glycogen in the liver, kidneys, heart muscle, in the nervous system, skeletal muscles.
Clinical manifestations after birth: anorexia, vomiting, muscle weakness, shortness of breath, cyanosis, increased heart size, progressive heart failure according to the right ventricular type; frequent pneumonia on the background of atelectasis with severe respiratory failure; externally: round pasty face, enlarged tongue, muscle hypotension, delayed physical development. Neurological disorders associated with muscle weakness.

Laboratory data in the analysis of blood and urine unchanged. In liver biopsy samples, a large amount of glycogen.

Type III - limitdextrinosis (Forbes disease — Measles).

Incomplete breakdown of glycogen and the formation of a polysaccharide with shortened terminal branches of the molecule.

The clinic is like I type. The difference is an increase in blood sugar during galactose loading.

Survey Plan:

1) general analysis of blood, urine, urine for acetone;

2) determination of fasting blood sugar after a load of carbohydrates;

3) test with adrenaline and glucagon;

4) a study of blood serum (proteinogram, cholesterol, lipids, activity of liver enzymes);

5) determination of glycogen in a biopsy of the liver, in peripheral blood cells;

6) ECG and FCG;

7) optometrist consultation.

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Glycogenosis

  1. Glycogenoses (diseases of the accumulation of glycogen)
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