Combined oxidative phosphorylation defect type 24 (COXPD24) 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 is supportive and may include physical therapy, medications, and dietary modifications.

The symptoms of Combined oxidative phosphorylation defect type 24 (COXPD24) 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 24 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 24 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 supplements, such as Coenzyme Q10, to help improve mitochondrial function. In some cases, a liver transplant may be recommended. Additionally, physical and occupational therapy may be recommended to help improve muscle strength and coordination.

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)
21. Elevated levels of aspartate amin

At this time, there is no known cure or medications for Combined Oxidative Phosphorylation Defect Type 24. Treatment focuses on managing the symptoms and complications of the disorder. This may include dietary modifications, physical therapy, and medications to help with breathing and other symptoms.