Combined oxidative phosphorylation defect type 4 (COXPD4) 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 typically involves dietary modifications, physical therapy, and medications to manage symptoms.

The symptoms of Combined oxidative phosphorylation defect type 4 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 levels of certain enzymes in the blood

Combined oxidative phosphorylation defect type 4 (COXPD4) 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 amount of the SURF1 protein, which disrupts the production of energy in cells.

Treatment for Combined oxidative phosphorylation defect type 4 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 antioxidants, such as Coenzyme Q10, to help reduce oxidative stress, and the use of carnitine to help improve energy production. In some cases, a liver transplant may be recommended.

1. Mutations in the SURF1 gene
2. Inheritance in an autosomal recessive pattern
3. Mutations in the SCO2 gene
4. Mutations in the COX10 gene
5. Mutations in the COX15 gene
6. Mutations in the COX20 gene
7. Mutations in the COX4I2 gene
8. Mutations in the COX6B1 gene
9. Mutations in the COX7A2L gene
10. Mutations in the COX8A gene

At this time, there is no known cure or medications for Combined Oxidative Phosphorylation Defect Type 4 (COXPD4). Treatment focuses on managing the symptoms and complications of the condition. This may include physical therapy, occupational therapy, speech therapy, nutritional support, and medications to help with breathing and other symptoms.