Combined oxidative phosphorylation defect type 39 (COXPD39) is a rare genetic disorder caused by mutations in the SURF1 gene. It is characterized by a deficiency in the production of energy in the cells of the body, leading to a wide range of symptoms including muscle weakness, seizures, and developmental delays. It is inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated for a person to be affected by the disorder.

The symptoms of Combined oxidative phosphorylation defect type 39 vary depending on the severity of the condition, but may include:

- Muscle weakness
- Exercise intolerance
- Poor growth
- Developmental delay
- Seizures
- Cardiomyopathy
- Abnormal liver function
- Abnormal heart rhythm
- Abnormal breathing patterns
- Abnormal blood sugar levels
- Abnormal blood pressure
- Abnormal blood clotting
- Abnormal blood cell counts
- Abnormal kidney function
- Abnormal vision
- Abnormal hearing
- Abnormal skin pigmentation
- Abnormal bone development
- Abnormal brain development
- Abnormal behavior

Combined oxidative phosphorylation defect type 39 is caused by mutations in the SURF1 gene. This gene provides instructions for making a protein that is involved in the production of energy in cells. Mutations in this gene disrupt the production of energy, leading to the signs and symptoms of this disorder.

Treatment for Combined oxidative phosphorylation defect type 39 is largely supportive and symptomatic. This includes dietary modifications, such as a low-fat diet, and the use of medications to manage symptoms. Other treatments may include the use of supplements, such as Coenzyme Q10, to help improve mitochondrial function, as well as physical and occupational therapy to help improve muscle strength and coordination. In some cases, a bone marrow transplant may be recommended to help improve the body's ability to produce energy.

1. Mutations in the NDUFAF2 gene
2. Inheritance of a defective gene from a parent
3. Exposure to environmental toxins
4. Certain medical conditions, such as diabetes or kidney disease
5. Certain medications, such as anticonvulsants or antibiotics
6. Vitamin deficiencies, such as thiamine or riboflavin

At this time, there is no known cure or medications for Combined Oxidative Phosphorylation Defect Type 39. Treatment focuses on managing the symptoms and complications of the disorder. This may include physical therapy, occupational therapy, speech therapy, nutritional support, and medications to treat seizures or other symptoms.