About Glycogen storage disease due to lactate dehydrogenase deficiency

What is Glycogen storage disease due to lactate dehydrogenase deficiency?

Glycogen storage disease due to lactate dehydrogenase deficiency (GSD-LD) is a rare inherited disorder caused by a deficiency of the enzyme lactate dehydrogenase (LDH). This enzyme is responsible for converting lactate to pyruvate, which is then used to produce energy. Without this enzyme, the body is unable to properly break down and store glycogen, leading to a buildup of glycogen in the liver and other organs. Symptoms of GSD-LD include low blood sugar, enlarged liver, and muscle weakness. Treatment typically involves dietary changes and medications to help manage symptoms.

What are the symptoms of Glycogen storage disease due to lactate dehydrogenase deficiency?

The symptoms of Glycogen storage disease due to lactate dehydrogenase deficiency can include:

- Muscle weakness
- Muscle cramps
- Exercise intolerance
- Abnormal heart rhythms
- Abnormal liver function tests
- Low blood sugar
- Poor growth
- Delayed puberty
- Abnormal blood clotting
- Abnormal blood lipid levels
- Abnormal red blood cell counts
- Abnormal white blood cell counts
- Abnormal kidney function tests
- Abnormal urine tests
- Abnormal vision tests
- Abnormal hearing tests
- Abnormal electrocardiogram (ECG) results

What are the causes of Glycogen storage disease due to lactate dehydrogenase deficiency?

Glycogen storage disease due to lactate dehydrogenase deficiency is caused by mutations in the LDHA gene, which encodes the enzyme lactate dehydrogenase A. This enzyme is responsible for converting pyruvate to lactate in the glycolysis pathway. Mutations in this gene can lead to a deficiency in the enzyme, resulting in an inability to break down glycogen and an accumulation of glycogen in the body. This can lead to a variety of symptoms, including muscle weakness, fatigue, and exercise intolerance.

What are the treatments for Glycogen storage disease due to lactate dehydrogenase deficiency?

1. Dietary management: A diet low in carbohydrates and high in proteins and fats is recommended to reduce the amount of glucose entering the bloodstream.

2. Enzyme replacement therapy: This involves the administration of the missing enzyme, lactate dehydrogenase, to help break down the glycogen.

3. Medication: Medications such as metformin and acarbose can be used to reduce the amount of glucose entering the bloodstream.

4. Exercise: Regular exercise can help reduce the amount of glucose entering the bloodstream and improve muscle strength.

5. Liver transplant: In some cases, a liver transplant may be necessary to replace the damaged liver with a healthy one.

What are the risk factors for Glycogen storage disease due to lactate dehydrogenase deficiency?

1. Genetic inheritance: Glycogen storage disease due to lactate dehydrogenase deficiency is an autosomal recessive disorder, meaning that it is inherited from both parents.

2. Ethnicity: Glycogen storage disease due to lactate dehydrogenase deficiency is more common in certain ethnic groups, such as Ashkenazi Jews, French Canadians, and Cajuns.

3. Age: Glycogen storage disease due to lactate dehydrogenase deficiency is more common in infants and young children.

4. Gender: Glycogen storage disease due to lactate dehydrogenase deficiency is more common in males than females.

Is there a cure/medications for Glycogen storage disease due to lactate dehydrogenase deficiency?

Unfortunately, there is no cure for glycogen storage disease due to lactate dehydrogenase deficiency. However, there are medications that can help manage the symptoms of the disease. These medications include enzyme replacement therapy, dietary modifications, and medications to reduce muscle cramps. Additionally, physical therapy and exercise can help improve muscle strength and coordination.