Metabolic myopathy due to lactate transporter defect is a rare genetic disorder caused by a defect in the gene that codes for a protein involved in the transport of lactate across cell membranes. This defect leads to an accumulation of lactate in the muscles, resulting in muscle weakness and fatigue. Symptoms may include muscle cramps, stiffness, and pain. Treatment typically involves physical therapy, medications, and lifestyle modifications.

The symptoms of Metabolic myopathy due to lactate transporter defect can vary depending on the severity of the condition, but may include:

- Muscle weakness
- Muscle cramps
- Fatigue
- Exercise intolerance
- Abnormal heart rhythms
- Abnormal blood lactate levels
- Abnormal liver function tests
- Abnormal kidney function tests
- Abnormal glucose tolerance tests
- Abnormal calcium levels
- Abnormal magnesium levels
- Abnormal phosphorus levels
- Abnormal potassium levels
- Abnormal sodium levels
- Abnormal creatine kinase levels
- Abnormal uric acid levels
- Abnormal lipid levels
- Abnormal thyroid hormone levels
- Abnormal growth hormone levels
- Abnormal cortisol levels
- Abnormal parathyroid hormone levels
- Abnormal vitamin D levels
- Abnormal vitamin B

Metabolic myopathy due to lactate transporter defect is caused by a genetic mutation in the SLC16A1 gene, which is responsible for the production of a protein called monocarboxylate transporter 1 (MCT1). This protein is responsible for transporting lactate across the cell membrane. When the gene is mutated, the protein is not produced correctly, leading to an inability to transport lactate, resulting in a buildup of lactate in the muscles. This can lead to muscle weakness, fatigue, and cramping.

1. Dietary modifications: A low-lactose diet is recommended to reduce the amount of lactate in the body.

2. Exercise: Regular exercise can help improve muscle strength and reduce fatigue.

3. Medications: Medications such as riboflavin, coenzyme Q10, and creatine may be prescribed to help reduce symptoms.

4. Physical therapy: Physical therapy can help improve muscle strength and reduce fatigue.

5. Surgery: In some cases, surgery may be recommended to correct the underlying defect.

1. Genetic predisposition: Metabolic myopathy due to lactate transporter defect is caused by a genetic mutation in the SLC16A1 gene.

2. Age: Metabolic myopathy due to lactate transporter defect is more common in children and young adults.

3. Gender: Metabolic myopathy due to lactate transporter defect is more common in males than females.

4. Ethnicity: Metabolic myopathy due to lactate transporter defect is more common in individuals of African descent.

5. Diet: A diet high in carbohydrates and low in protein can increase the risk of developing metabolic myopathy due to lactate transporter defect.

At this time, there is no known cure for metabolic myopathy due to lactate transporter defect. However, there are medications that can help manage the symptoms of the condition. These include medications to reduce muscle pain and spasms, as well as medications to help improve energy levels. Additionally, physical therapy and lifestyle modifications, such as a healthy diet and regular exercise, can help improve overall health and quality of life.