Type 0 Glycogenosis (Aglycogenosis)

What is Type 0 Glycogenosis (aglycogenosis)?

Aglycogenosis is a hereditary disease caused by the absence of an enzyme responsible for the synthesis of glycogen, namely uridine diphosphate glucose glycogen transferase or glycogen synthetase. This disease was described in 1363 by Lewis and then in 1964 by Speneer-Peet in several children of both sexes in the same family, two of whom experienced mental retardation.

Causes of Type 0 Glycogenosis (Aglycogenosis)

The disease is caused by the absence of the uridine diphosphate-glucose-glycogen-transferase or glycogen synthetase enzyme responsible for glycogen synthesis. The type of inheritance is autosomal recessive.

Pathogenesis during Type 0 Glycogenosis (Aglycogenosis)

Glycogen is completely absent in the liver; there is a complete deficiency of glycogen synthetase during normal activity of other enzymes involved in glycogen metabolism.

Symptoms of Type 0 Glycogenosis (Aglycogenosis)

With aglycogenosis in children, sharp hypoglycemia is observed, the glucose content drops to 7-12 mg%. Hypoglycemic convulsions in patients usually occur in the morning and can be prevented only by frequent feeding of children at night.

Diagnosis of Glycogenosis Type 0 (Aglycogenosis)

If there is a suspicion of aglycogenosis (frequent and severe hypoglycemia), a liver biopsy is necessary for testing for glycogen and enzymes involved in its synthesis. A differential diagnosis is made with hypoglycemia.

Treatment of Type 0 Glycogenosis (Aglycogenosis)

The treatment is symptomatic.

The forecast is unfavorable.

Prevention of Type 0 Glycogenosis (Aglycogenosis)

Prevention is not developed. To prevent the birth of a child with glycogenosis in families where there were similar patients, medical and genetic counseling is carried out.