What is Type IV Glycogenosis (Andersen’s Disease, Amylopectinosis, Diffuse Glycogenosis with Cirrhosis)?
Type IV glycogenosis (Andersen’s disease, amylopectinosis, diffuse glycogenosis with cirrhosis of the liver) is a hereditary disease that is caused by a deficiency of enzymes involved in glycogen metabolism; characterized by a violation of the structure of glycogen, insufficient or excessive accumulation of it in various organs and tissues.
Causes of Type IV Glycogenosis (Andersen’s Disease, Amylopectinosis, Diffuse Glycogenosis with Cirrhosis)
Andersen’s disease results from mutations in the gene of the microsomal amylo-1,4: 1,6-glucantransferase, leading to its insufficiency in the liver, muscles, white blood cells, red blood cells and fibroblasts. The gene is mapped on chromosome 3p 12. The type of inheritance is autosomal recessive.
Pathogenesis during Type IV Glycogenosis (Andersen’s Disease, Amylopectinosis, Diffuse Glycogenosis with Cirrhosis)
Amylo-1,4: 1,6-glucantransferase is involved in the synthesis of glycogen at the branch points of the glycogen tree. The enzyme combines the sesent from at least six a-1,4-linked glucoside residues of the glycogen outer chains with the glycogen “tree” of the a-1,6-glycosidic bond. With enzyme deficiency, amylopectin is deposited in the liver and muscle cells, which leads to cell damage. The concentration of glycogen in the liver does not exceed 5%.
Symptoms of Type IV Glycogenosis (Andersen’s Disease, Amylopectinosis, Diffuse Glycogenosis with Cirrhosis)
The disease manifests itself in the first year of life with non-specific gastroin-testinal symptoms: vomiting, diarrhea. As the disease progresses, hepatosplenomegaly occurs, progressive liver failure, generalized muscle hypotension and atrophy, as well as severe cardiomyopathy. The death of patients usually occurs before 3-5 years due to chronic liver failure, rarely in older children (up to 8 years).
Diagnosis of Type IV Glycogenosis (Andersen’s Disease, Amylopectinosis, Diffuse Glycogenosis with Cirrhosis)
Laboratory diagnostics is based on the detection of altered glycogen in the liver biopsy specimen and a decrease in the activity of amylo-1,4: 1,6-glucantransferase.
Treatment of Type IV Glycogenosis (Andersen’s Disease, Amylopectinosis, Diffuse Glycogenosis with Cirrhosis)
The treatment is aimed at combating metabolic disorders, including with acidosis. In some cases, the use of glucagon, anabolic hormones and glucocorticoids is effective. Frequent meals high in easily digestible carbohydrates are essential for hypoglycemia. With muscle forms of glycogenosis, improvement is observed when following a diet with a high protein content, the appointment of fructose (inside 50-100 g per day), multivitamins, ATP. Attempts are being made to administer to the patient the missing enzymes.
Patients with glycogenosis are subject to clinical observation by a doctor of the medical-genetic center and a pediatrician (therapist) of the clinic.
Prevention of Type IV Glycogenosis (Andersen’s Disease, Amylopectinosis, Diffuse Glycogenosis with Cirrhosis)
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.