Combined oxidative phosphorylation defect type 30 (COXPD30) 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 30 (COXPD30) 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 30 (COXPD30) 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 COXPD30.

Treatment for Combined oxidative phosphorylation defect type 30 is largely supportive and symptomatic. This includes dietary modifications, such as a low-fat diet, and the use of supplements to help manage symptoms. Other treatments may include medications to help manage seizures, physical therapy to help with muscle weakness, and oxygen therapy to help with breathing difficulties. In some cases, a liver transplant may be recommended.

1. Mutations in the SURF1 gene
2. Inheritance in an autosomal recessive pattern
3. Abnormalities in the mitochondria
4. Low levels of cytochrome c oxidase (COX) activity
5. Low levels of ATP production
6. Seizures
7. Developmental delay
8. Muscle weakness
9. Exercise intolerance
10. Cardiomyopathy
11. Respiratory failure
12. Hearing loss
13. Visual impairment
14. Gastrointestinal problems
15. Kidney problems
16. Hypoglycemia
17. Hypotonia
18. Lactic acidosis
19. Hyperammonemia
20. Elevated levels of alanine aminotransferase (ALT) and aspartate aminotransferase (AST

At this time, there is no known cure or medications for Combined Oxidative Phosphorylation Defect Type 30. 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 help with seizures, breathing, and other symptoms.