Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency (GSD-LDM) is a rare inherited disorder caused by a deficiency of the enzyme lactate dehydrogenase M-subunit (LDM). This enzyme is involved in the breakdown of glycogen, a form of stored sugar in the body. Without enough of this enzyme, glycogen accumulates in the body, leading to a variety of symptoms. Symptoms of GSD-LDM can include 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 M-subunit deficiency include:

-Hypoglycemia
-Lactic acidosis
-Hepatomegaly
-Hyperammonemia
-Hyperuricemia
-Hyperlipidemia
-Cardiomyopathy
-Muscle weakness
-Exercise intolerance
-Growth retardation
-Developmental delay
-Hearing loss
-Seizures
-Renal tubular acidosis

Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency is caused by mutations in the LDHA gene, which encodes the M-subunit of lactate dehydrogenase. These mutations lead to a deficiency of the enzyme, which is responsible for converting pyruvate to lactate in the glycolytic pathway. This deficiency results in an accumulation of glycogen in the liver and other tissues, leading to the symptoms of the disease.

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 M-subunit, 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.

1. Genetic inheritance: Glycogen storage disease due to lactate dehydrogenase M-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 M-subunit deficiency can affect individuals of any age, but is most commonly seen in infants and young children.

Unfortunately, there is no cure for glycogen storage disease due to lactate dehydrogenase M-subunit deficiency. Treatment focuses on managing the symptoms and preventing complications. Medications such as glucagon, glucose, and insulin may be used to help control blood sugar levels. Dietary modifications, such as avoiding high-sugar foods, may also be recommended. Physical activity and regular exercise can help to improve muscle strength and endurance. In some cases, a liver transplant may be recommended.