Combined oxidative phosphorylation defect type 17 (COXPD17) 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 17 (COXPD17) vary from person to person, but may include:

-Developmental delay
-Seizures
-Growth retardation
-Muscle weakness
-Feeding difficulties
-Liver dysfunction
-Cardiac arrhythmias
-Respiratory problems
-Hypoglycemia
-Hypotonia
-Hearing loss
-Visual impairment
-Cognitive impairment
-Behavioral problems

Combined oxidative phosphorylation defect type 17 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 17 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 medications to help with muscle weakness. Physical and occupational therapy may also be recommended to help with muscle weakness and coordination. In some cases, a liver transplant may be recommended.

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

At this time, there is no known cure or medications for Combined Oxidative Phosphorylation Defect Type 17. Treatment focuses on managing the symptoms and complications of the condition. This may include dietary modifications, physical therapy, and medications to help with symptoms such as seizures and muscle weakness.