Combined oxidative phosphorylation defect type 8 (COXPD8) 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 in order for the disorder to be present. Treatment is supportive and may include physical therapy, medications, and dietary modifications.

The symptoms of Combined oxidative phosphorylation defect type 8 (COXPD8) vary from person to person, but may include:

- Muscle weakness
- Exercise intolerance
- Poor growth
- Developmental delay
- Seizures
- Cardiomyopathy
- Abnormal heart rhythms
- Respiratory problems
- Gastrointestinal issues
- Hearing loss
- Vision problems
- Kidney problems
- Liver problems
- Hypoglycemia
- Hypotonia
- Hypotension
- Hypothermia

Combined oxidative phosphorylation defect type 8 (COXPD8) 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 the SURF1 gene lead to a decrease in the activity of the protein, which disrupts the production of energy in cells and causes the signs and symptoms of COXPD8.

Treatment for Combined oxidative phosphorylation defect type 8 is largely supportive and symptomatic. This includes dietary modifications, such as a low-fat diet, and the use of medications to reduce symptoms. Other treatments may include the use of supplements, such as Coenzyme Q10, to help improve mitochondrial function. In some cases, a liver transplant may be recommended. Additionally, physical and occupational therapy may be recommended to help improve muscle strength and coordination.

1. Mutations in the SURF1 gene
2. Inheritance of a mutated gene from a parent
3. Exposure to certain environmental toxins
4. Premature birth
5. Low birth weight
6. Low Apgar scores
7. Respiratory distress syndrome
8. Seizures
9. Developmental delays
10. Muscle weakness
11. Cardiomyopathy
12. Abnormal liver function tests
13. Abnormal kidney function tests
14. Abnormal blood sugar levels
15. Abnormal blood clotting
16. Abnormal blood pressure
17. Abnormal heart rate
18. Abnormal breathing patterns
19. Abnormal electrocardiogram (ECG) readings
20. Abnormal brain imaging results

At this time, there is no known cure or medications for Combined Oxidative Phosphorylation Defect Type 8 (COXPD8). Treatment is focused on managing the symptoms of the condition, which can include providing nutritional support, physical therapy, and medications to help with breathing and other symptoms.