Combined oxidative phosphorylation defect type 23 (COXPD23) 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 23 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 23 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 23 is largely supportive and symptomatic. This includes dietary modifications, such as a low-fat diet, and the use of supplements to replace missing nutrients. Medications may be prescribed to help manage symptoms, such as anticonvulsants for seizures and muscle relaxants for muscle spasms. Oxygen therapy may be used to help improve breathing. Physical and occupational therapy may be recommended to help improve strength and coordination. In some cases, a liver transplant may be recommended.

1. Mutations in the SURF1 gene
2. Inheritance in an autosomal recessive pattern
3. Premature death of affected individuals
4. Seizures
5. Developmental delay
6. Muscle weakness
7. Exercise intolerance
8. Cardiomyopathy
9. Respiratory failure
10. Abnormal liver function tests
11. Abnormal brain imaging
12. Abnormal electroencephalogram (EEG)
13. Abnormal muscle biopsy
14. Abnormal mitochondrial DNA

At this time, there is no known cure or medications for Combined Oxidative Phosphorylation Defect Type 23. 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.