About Combined oxidative phosphorylation defect type 21

What is Combined oxidative phosphorylation defect type 21?

Combined oxidative phosphorylation defect type 21 (COXPD21) 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.

What are the symptoms of Combined oxidative phosphorylation defect type 21?

The symptoms of Combined oxidative phosphorylation defect type 21 can 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 growth
- Abnormal facial features

What are the causes of Combined oxidative phosphorylation defect type 21?

Combined oxidative phosphorylation defect type 21 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.

What are the treatments for Combined oxidative phosphorylation defect type 21?

Treatment for Combined oxidative phosphorylation defect type 21 (COXPD21) is largely supportive and symptomatic. Treatment may include dietary modifications, such as a low-fat diet, and supplementation with carnitine, coenzyme Q10, and riboflavin. Antioxidants, such as vitamin E, may also be recommended. In some cases, medications such as anticonvulsants may be prescribed to help manage seizures. Physical therapy and occupational therapy may also be recommended to help improve muscle strength and coordination. In severe cases, a heart transplant may be necessary.

What are the risk factors for Combined oxidative phosphorylation defect type 21?

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 blood pressure
17. Abnormal heart rate
18. Abnormal breathing patterns
19. Abnormal electrocardiogram (ECG) readings
20. Abnormal brain imaging results
21. Abnormal eye movements

Is there a cure/medications for Combined oxidative phosphorylation defect type 21?

At this time, there is no known cure or medications for Combined Oxidative Phosphorylation Defect Type 21. Treatment focuses on managing symptoms and preventing complications. This may include dietary changes, physical therapy, and medications to help with symptoms such as seizures and muscle weakness.