Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency (GSD-LDH-H) is a rare inherited disorder caused by a deficiency of the enzyme lactate dehydrogenase H-subunit (LDH-H). This enzyme is involved in the breakdown of glycogen, a form of stored sugar, in the body. People with GSD-LDH-H have an accumulation of glycogen in their cells, which can lead to a variety of symptoms, including muscle weakness, fatigue, and difficulty breathing. Treatment typically involves dietary changes and medications to help manage symptoms.

The symptoms of Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency include:

-Hypoglycemia
-Lactic acidosis
-Hyperammonemia
-Hepatomegaly
-Cardiomyopathy
-Developmental delay
-Seizures
-Muscle weakness
-Growth retardation
-Hemolytic anemia
-Hepatic dysfunction
-Renal tubular acidosis

Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency is caused by mutations in the LDH-H gene, which is responsible for producing the enzyme lactate dehydrogenase H-subunit. This enzyme is involved in the breakdown of glucose to produce energy. When the enzyme is deficient, the body is unable to break down glucose properly, leading to a buildup of glycogen in the body. This can cause a variety of symptoms, including muscle weakness, fatigue, and difficulty breathing.

1. Dietary therapy: 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 H-subunit, to help break down the glycogen.

3. Medication: Medications such as glucagon and insulin can be used to help regulate blood sugar levels.

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

5. Surgery: In some cases, surgery may be necessary to remove the excess glycogen from the liver.

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

2. Ethnicity: This disorder is more common in individuals of Ashkenazi Jewish descent.

3. Age: Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency is usually diagnosed in infancy or early childhood.

Unfortunately, there is no cure for glycogen storage disease due to lactate dehydrogenase H-subunit 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 help control blood sugar levels. Additionally, physical therapy and exercise can help improve muscle strength and endurance.