About Glycogen storage disease due to hepatic glycogen synthase deficiency

What is Glycogen storage disease due to hepatic glycogen synthase deficiency?

Glycogen storage disease due to hepatic glycogen synthase deficiency (GSD-HGS) is a rare inherited disorder caused by a deficiency of the enzyme hepatic glycogen synthase. This enzyme is responsible for the synthesis of glycogen, a form of glucose that is stored in the liver and used for energy. People with GSD-HGS have an inability to store glycogen in the liver, leading to a buildup of glucose in the bloodstream and a variety of symptoms. Symptoms may include low blood sugar, poor growth, enlarged liver, and liver failure. Treatment typically involves dietary modifications and medications to help control blood sugar levels.

What are the symptoms of Glycogen storage disease due to hepatic glycogen synthase deficiency?

The symptoms of Glycogen Storage Disease due to hepatic glycogen synthase deficiency include:

-Hypoglycemia
-Liver enlargement
-Hepatomegaly
-Hepatic steatosis
-Hyperlipidemia
-Ascites
-Jaundice
-Hepatic encephalopathy
-Aminotransferase elevation
-Coagulopathy
-Aminoaciduria
-Hyperuricemia
-Hyperammonemia
-Hypophosphatemia
-Hypokalemia
-Hypercalcemia
-Growth retardation
-Delayed puberty
-Cardiomyopathy
-Renal tubular acidosis

What are the causes of Glycogen storage disease due to hepatic glycogen synthase deficiency?

1. Mutations in the GYS1 gene, which encodes the enzyme hepatic glycogen synthase.

2. Mutations in the GBE1 gene, which encodes the enzyme glycogen branching enzyme.

3. Mutations in the SLC37A4 gene, which encodes the enzyme glucose-6-phosphate translocase.

4. Mutations in the AGL gene, which encodes the enzyme glycogen debranching enzyme.

5. Mutations in the G6PC gene, which encodes the enzyme glucose-6-phosphatase.

6. Mutations in the PYGL gene, which encodes the enzyme glycogen phosphorylase.

7. Mutations in the GAA gene, which encodes the enzyme acid alpha-

What are the treatments for Glycogen storage disease due to hepatic glycogen synthase deficiency?

1. Dietary therapy: A low-carbohydrate diet is recommended to reduce the amount of glucose entering the liver and reduce the risk of hypoglycemia.

2. Medication: Medications such as glucagon, diazoxide, and octreotide can be used to reduce the risk of hypoglycemia.

3. Enzyme replacement therapy: Enzyme replacement therapy with recombinant human liver glycogen synthase can be used to improve the body’s ability to store and use glycogen.

4. Liver transplantation: In some cases, a liver transplant may be necessary to improve the body’s ability to store and use glycogen.

What are the risk factors for Glycogen storage disease due to hepatic glycogen synthase deficiency?

1. Genetic mutation in the GYS1 gene
2. Family history of Glycogen storage disease
3. Low birth weight
4. Premature birth
5. Low blood sugar levels
6. Liver dysfunction
7. Abnormal liver enzymes
8. Abnormal liver biopsy
9. Abnormal liver imaging
10. Abnormal liver function tests

Is there a cure/medications for Glycogen storage disease due to hepatic glycogen synthase deficiency?

Yes, there is a cure for glycogen storage disease due to hepatic glycogen synthase deficiency. Treatment typically involves a combination of dietary modifications, medications, and enzyme replacement therapy. Dietary modifications include reducing the amount of carbohydrates in the diet and increasing the amount of protein and fat. Medications such as glucagon, insulin, and growth hormone may also be prescribed to help regulate blood sugar levels. Enzyme replacement therapy is also available, which involves injecting a synthetic form of the missing enzyme into the body.