Combined oxidative phosphorylation defect type 7 (COXPD7) 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 7 (COXPD7) vary depending on the severity of the condition, but may include:

- Muscle weakness
- Exercise intolerance
- Poor growth
- Developmental delay
- Seizures
- Cardiomyopathy
- Abnormal heart rhythms
- Respiratory problems
- Gastrointestinal issues
- Hearing loss
- Vision problems
- Hypoglycemia
- Elevated levels of lactic acid in the blood
- Elevated levels of ammonia in the blood
- Elevated levels of creatine kinase in the blood

Combined oxidative phosphorylation defect type 7 (COXPD7) 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 COXPD7.

The treatments for Combined oxidative phosphorylation defect type 7 depend on the severity of the condition and the specific symptoms present. Treatment may include dietary modifications, vitamin and mineral supplementation, medications to improve energy production, and physical and occupational therapy. In some cases, a liver or heart transplant may be necessary.

1. Mutations in the SURF1 gene
2. Inheritance of a defective 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 levels of certain proteins in the blood

At this time, there is no known cure or medications for Combined Oxidative Phosphorylation Defect Type 7 (COXPD7). 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.